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 genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.	Preferred (foundation metadata concept)
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others.	Preferred (foundation metadata concept)
A rare genetic syndrome with characteristics of developmental delay and mild to moderate intellectual disability. Verbal language acquisition is usually delayed, with restricted language. The congenital heart defects are present in 41% of individuals, the most frequent being interatrial communication and interventricular communication. The syndrome is caused by heterozygous, usually de novo pathogenic or likely pathogenic variants in the CDK13 gene (7p14.1), coding for a protein which regulates transcription. Transmission is autosomal dominant however, in most situations, the pathogenic variants arise de novo, and thus, the risk of sibling recurrence is low.	Preferred (foundation metadata concept)
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Preferred (foundation metadata concept)
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11.	Preferred (foundation metadata concept)
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.	Preferred (foundation metadata concept)
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978.	Preferred (foundation metadata concept)
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.	Preferred (foundation metadata concept)
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.	Preferred (foundation metadata concept)
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.	Preferred (foundation metadata concept)
A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	Preferred (foundation metadata concept)
A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability affecting males with characteristics of short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Caused by heterozygous intragenic copy number variation in the KIAA0442 gene (AUTS2) on chromosome 7q11.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation. Typical characteristics are microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Caused by heterozygous mutation in the ASXL3 gene on chromosome 18q12.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability syndrome with characteristics of mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Preferred (foundation metadata concept)
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	Preferred (foundation metadata concept)
A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.	Preferred (foundation metadata concept)
A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11.	Preferred (foundation metadata concept)
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.	Preferred (foundation metadata concept)
A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.	Preferred (foundation metadata concept)
A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.	Preferred (foundation metadata concept)
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.	Preferred (foundation metadata concept)
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.	Preferred (foundation metadata concept)
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported.	Preferred (foundation metadata concept)
A rare genetic vascular disease with characteristics of congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. There is evidence the disease is caused by heterozygous mutation in the ACTA2 gene on chromosome 10q23.	Preferred (foundation metadata concept)
A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.	Preferred (foundation metadata concept)
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.	Preferred (foundation metadata concept)
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	Preferred (foundation metadata concept)
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.	Preferred (foundation metadata concept)
A rare genetic, multiple congenital anomalies syndrome with characteristics of the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.	Preferred (foundation metadata concept)
A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.	Preferred (foundation metadata concept)
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Preferred (foundation metadata concept)
A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.	Preferred (foundation metadata concept)
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Preferred (foundation metadata concept)
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	Preferred (foundation metadata concept)
A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues.	Preferred (foundation metadata concept)
A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome.	Preferred (foundation metadata concept)
A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.	Preferred (foundation metadata concept)
A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	Preferred (foundation metadata concept)
A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	Preferred (foundation metadata concept)
A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.	Preferred (foundation metadata concept)
A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved.	Preferred (foundation metadata concept)
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.	Preferred (foundation metadata concept)
A rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	Preferred (foundation metadata concept)
A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advanced stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.	Preferred (foundation metadata concept)
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia.	Preferred (foundation metadata concept)
A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure.	Preferred (foundation metadata concept)
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others.	Preferred (foundation metadata concept)
A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	Preferred (foundation metadata concept)
A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).	Preferred (foundation metadata concept)
A rare hemorrhagic disorder due to a constitutional hemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	Preferred (foundation metadata concept)
A rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	Preferred (foundation metadata concept)
A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.	Preferred (foundation metadata concept)
A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.	Preferred (foundation metadata concept)
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.	Preferred (foundation metadata concept)
A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.	Preferred (foundation metadata concept)
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.	Preferred (foundation metadata concept)
A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	Preferred (foundation metadata concept)
A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	Preferred (foundation metadata concept)
A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.	Preferred (foundation metadata concept)
A rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.	Preferred (foundation metadata concept)
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Preferred (foundation metadata concept)
A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.	Preferred (foundation metadata concept)
A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.	Preferred (foundation metadata concept)
A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.	Preferred (foundation metadata concept)
A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.	Preferred (foundation metadata concept)
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22.	Preferred (foundation metadata concept)
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.	Preferred (foundation metadata concept)
A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

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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)