900000000000509007: United States of America English language reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Language type reference set (foundation metadata concept)\English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)\US English

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
US English	Is a	English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)	true	Inferred relationship	Some

Members	acceptabilityId
A rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16. The syndrome has characteristics of global developmental delay, pre or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or less commonly infantile hepatic disease. Patients are also reported to have tapered fingers.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 16 with variable phenotype. Principle characteristics are developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and esophagus defects along with central nervous system and behavioral/psychiatric abnormalities have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable clinical presentation. The disorder has characteristics of growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype and principle characteristics of postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (for example pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principal characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (horseshoe kidneys) have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (for example hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia and talipes equinovarus have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations include Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears and micrognathia) and genital anomalies (undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations range from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (ventricular septal defect) and genital (hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (for example hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are developmental or growth delay, short stature, craniofacial dysmorphism (turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry and intellectual disability have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, cafe au lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (cryptorchidism, hypospadias, micropenis).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (ventricular septal defect), as well as urogenital (hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are pre and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (clinodactyly, brachydactyly), cafe au lait patches and hypospadias.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (cubitus valgus, syn/brachydactyly), renal and genital anomalies have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (including microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (for example hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations and seizures have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. The principle characteristics are growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (radial ray defects, scoliosis) malformations. Death usually occurs neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, facial clefts and anal atresia.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a highly variable phenotype. The syndrome has characteristics of pre and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with a variable phenotype. Principally characteristics are intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachy rhizomelia, poly/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with characteristics of low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (for example clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with characteristics of mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with high phenotypic variability. Manifestations range from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (pectus excavatum, scoliosis), ocular (coloboma) and cardiac abnormalities.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with highly variable phenotype. Principal characteristics are intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (for example kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (including cafe-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (for example genital hypoplasia, phimosis, cryptorchidism).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with principle characteristics of intrauterine growth restriction, congenital cardiac anomalies (ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (hypoplastic cerebellum, ventricular asymmetry), renal (small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome with variable phenotype and principle characteristics of developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (for example clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from a partial interstitial micro duplication of the short arm of chromosome 7. The disease has characteristics of intellectual disability, psychomotor and speech delay, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X. The disease has principle characteristics of classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay and moderate to severe mental handicap. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8. The disease has a highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (for example mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various neoplasms. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Thirty to fifty percent of individuals have autism. An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo.	Preferred (foundation metadata concept)
A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia.	Preferred (foundation metadata concept)
A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation.	Preferred (foundation metadata concept)
A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	Preferred (foundation metadata concept)
A rare chromosome X structural anomaly with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (for example cubitus valgus, talipes equinovarus). Patients may also present heart malformations (for example ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi and seizures.	Preferred (foundation metadata concept)
A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.	Preferred (foundation metadata concept)
A rare chronic form of cutaneous amyloidosis, a skin disease with characteristics of the accumulation of amyloid deposits in the dermis. Clinical manifestations include the development of pruritic, often pigmented hyperkeratotic papules on trunk and extremities, especially on the shins. Histological findings include the deposition of amyloid or amyloid-like proteins in the papillary dermis.	Preferred (foundation metadata concept)
A rare chronic immune-mediated demyelinating polyneuropathy. The exact prevalence is unknown but less than 30 cases have been reported in the literature. The clinical picture comprises a chronic neuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs. Motor weakness affecting the oculomotor and bulbar muscles is present as either a fixed or relapsing-remitting feature.	Preferred (foundation metadata concept)
A rare ciliopathy with characteristics of congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges and retrognathia) and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.	Preferred (foundation metadata concept)
A rare ciliopathy with characteristics of oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangia, polydactyly) and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.	Preferred (foundation metadata concept)
A rare ciliopathy with major skeletal involvement with characteristics of short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet and hypoplastic scapulae. Additional hallmarks of ciliopathy disease such as laterality defects and cystic kidneys have also been observed.	Preferred (foundation metadata concept)
A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.	Preferred (foundation metadata concept)
A rare clinical situation occurring in the context of Parkinson disease with characteristics of return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off) and Dose Failure.	Preferred (foundation metadata concept)
A rare clinical situation with characteristics which include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.	Preferred (foundation metadata concept)
A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance.	Preferred (foundation metadata concept)
A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens and fluctuating neutropenia.	Preferred (foundation metadata concept)
A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.	Preferred (foundation metadata concept)
A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic Epstein-Barr viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.	Preferred (foundation metadata concept)
A rare combined T and B cell immunodeficiency with characteristics of susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. There is evidence the disease is caused by homozygous mutation in the OX40 gene (TNFRSF4) on chromosome 1p36.	Preferred (foundation metadata concept)
A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.	Preferred (foundation metadata concept)
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.	Preferred (foundation metadata concept)
A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31.	Preferred (foundation metadata concept)
A rare complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.	Preferred (foundation metadata concept)
A rare complex form of hereditary spastic paraplegia with the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. Caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.	Preferred (foundation metadata concept)
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others.	Preferred (foundation metadata concept)
A rare complex hereditary spastic paraplegia with characteristics of adult onset slowly progressive mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.	Preferred (foundation metadata concept)
A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.	Preferred (foundation metadata concept)
A rare complex hereditary spastic paraplegia with characteristics of early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.	Preferred (foundation metadata concept)
A rare complex hereditary spastic paraplegia with characteristics of early onset of slowly progressive spastic para or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature and urinary incontinence.	Preferred (foundation metadata concept)
A rare complex hereditary spastic paraplegia with characteristics of neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.	Preferred (foundation metadata concept)
A rare complex hereditary spastic paraplegia with childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported.	Preferred (foundation metadata concept)
A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter.	Preferred (foundation metadata concept)
A rare complex subtype of hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (such as clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (for example nystagmus) and distal amyotrophy in the upper and lower limbs. Caused by homozygous mutation in the KIF1C gene on chromosome 17p13.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia with characteristics of adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The phenotype has been mapped to a locus on chromosome 6q23-q24.1.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia with characteristics of progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. This disease is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia with characteristics of the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria) and bladder disturbances. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.	Preferred (foundation metadata concept)
A rare complex type of hereditary spastic paraplegia with onset, in infancy or childhood of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. Caused by mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	Preferred (foundation metadata concept)
A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterized by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhea or weakness and fever which have lasted at least 30 days and are not related to an infection.	Preferred (foundation metadata concept)
A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene.	Preferred (foundation metadata concept)
A rare condition characterized by the occurrence and/or diagnosis of a malignancy during pregnancy. The most frequently diagnosed neoplasms are gynecologic tumors, especially cervical cancer, followed by hematologic malignancies.	Preferred (foundation metadata concept)
A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.	Preferred (foundation metadata concept)
A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance.	Preferred (foundation metadata concept)
A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large.	Preferred (foundation metadata concept)
A rare congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.	Preferred (foundation metadata concept)
A rare congenital anomaly of the great veins with characteristics of an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.	Preferred (foundation metadata concept)
A rare congenital anomaly of the inferior vena cava with characteristics of the postnatal presence of a eustachian valve remnant that may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, and infective endocarditis and when combined with persistent foramen ovale it may generate permanent right-to-left shunt.	Preferred (foundation metadata concept)
A rare congenital anomaly of the inferior vena cava with complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices and hematochezia among others. Additional venous abnormalities or cardiac malformations are frequently present.	Preferred (foundation metadata concept)
A rare congenital anorectal malformation with characteristics of an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority of malformations are found in the retro-rectal space where they communicate with or are contiguous to the rectum.	Preferred (foundation metadata concept)
A rare congenital arterial duct anomaly with characteristics of saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures can develop. Spontaneous resolution has been reported.	Preferred (foundation metadata concept)
A rare congenital atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.	Preferred (foundation metadata concept)
A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	Preferred (foundation metadata concept)
A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function.	Preferred (foundation metadata concept)
A rare congenital cerebellar malformation disorder with characteristics of complete or partial cerebellar vermis agenesis with no other associated malformations or anomalies. Patients may be asymptomatic although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia and delayed gait acquisition, along with delayed speech and language development.	Preferred (foundation metadata concept)
A rare congenital disorder characterized by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterized by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterized by dilatations of the large bile duct associated with congenital hepatic fibrosis. The etiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.	Preferred (foundation metadata concept)

Start Previous Page 148 of 12832 Next End

Reference Sets

Reference set descriptor

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
900000000001115012	United States of America English language reference set	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001116013	US English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001117016	United States of America English language reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)