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 plan or recommendation for services, based on an evaluation	Preferred (foundation metadata concept)
A planned residual tumor refers to the intentional leaving of a portion of the tumor after surgery. This decision can arise due to the tumor's proximity to vital structures, the risk of severe side effects from complete removal, or as part of a broader therapeutic strategy, such as subsequent radiation or chemotherapy.	Preferred (foundation metadata concept)
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Preferred (foundation metadata concept)
A polymorphic pattern of inflammatory reaction of the skin in response to contact with external irritants or allergens.	Preferred (foundation metadata concept)
A porcine xenograft of skin is when the skin donor is a pig and the graft recipient is a different species (human).	Preferred (foundation metadata concept)
A potential space containing the pterygoid and masseter muscles	Preferred (foundation metadata concept)
A potential space in the floor of the mouth; the part of the submandibular space above the mylohyoid muscle	Preferred (foundation metadata concept)
A potential space of the floor of the mouth; part of the submandibular space below the mylohyoid muscle	Preferred (foundation metadata concept)
A potential space of the floor of the mouth; the medial part of the submaxillary space	Preferred (foundation metadata concept)
A potentially lethal complication of pheochromocytoma that may occur as a result of anesthesia, surgery or during pregnancy and childbirth. The crisis is caused by excessive release of catecholamines and may be drug-induced secondary to histamine release, dopamine receptor blockade, or sympathomimetic action. Crisis may also result from mechanical factors such as squeeze of the tumor during surgery.	Preferred (foundation metadata concept)
A pregnancy that is implanted on or in a scar from a previous cesarean section.	Preferred (foundation metadata concept)
A pressure ulcer that cannot be assessed for extent of tissue damage because it is obscured by slough or eschar.	Preferred (foundation metadata concept)
A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.	Preferred (foundation metadata concept)
A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.	Preferred (foundation metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	Preferred (foundation metadata concept)
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	Preferred (foundation metadata concept)
A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance.	Preferred (foundation metadata concept)
A procedure done by piercing or penetrating with a pointed object or instrument	Preferred (foundation metadata concept)
A procedure in which an endoscope is used to access the procedure site.	Preferred (foundation metadata concept)
A procedure on the respiratory tract that observes pulmonary function	Preferred (foundation metadata concept)
A procedure that assesses the quality of health care service delivery	Preferred (foundation metadata concept)
A procedure that mobilizes or frees up an abnormally fixed structure	Preferred (foundation metadata concept)
A procedure that utilizes laser energy to target the trabecular meshwork through the outer edge of the eye (limbus), eliminating the need for direct eye contact or specialized lenses. This contrasts with selective laser trabeculoplasty, which requires a gonioscopy lens to precisely target the trabecular meshwork.	Preferred (foundation metadata concept)
A procedure to ascertain the level of antigen in a specimen.	Preferred (foundation metadata concept)
A procedure to assess the size, shape, and reactivity of the pupils to light and other stimuli, providing insights into neurological and ocular health.	Preferred (foundation metadata concept)
A procedure to remove the remaining thyroid tissue after a previous partial thyroid resection.	Preferred (foundation metadata concept)
A procedure to repair a defect of the atrioventricular septum, contiguous atrial and ventricular septal defects and abnormalities of the atrioventricular valves. The severity of the atrioventricular valve abnormalities can vary. A defect of the atrioventricular septum has previously been known as an endocardial cushion defect or atrioventricular canal defect.	Preferred (foundation metadata concept)
A procedure where a subject receives a transplant of their own organ, tissue, or cells.	Preferred (foundation metadata concept)
A process characterized by an initial humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition.	Preferred (foundation metadata concept)
A process characterized by an initial immune response to a foreign or self antigen resulting in the production of specific immunologic memory cells, antibodies and immune effector cells.	Preferred (foundation metadata concept)
A process characterized by an initial immune response to a foreign tissue antigen of the same species resulting in the production of specific immunologic memory cells, antibodies and immune effector cells which may lead to cellular destruction or transplant rejection.	Preferred (foundation metadata concept)
A process of working with others such as teachers, parents and care staff with the purpose of modifying their perceptions, attitudes, knowledge or understanding in order to enhance occupational performance within the patient's social environment.	Preferred (foundation metadata concept)
A process that reduces the level of inorganic precipitate within the organic matrix in the enamel and dentin of the tooth.	Preferred (foundation metadata concept)
A process where a dose form is transformed from that supplied by the manufacturer into a new dose form. This may occur as part of the dispensing act or immediately before administration.	Preferred (foundation metadata concept)
A professional discipline that combines basic pharmacology and clinical medicine with a focus of developing and understanding new drug therapies.	Preferred (foundation metadata concept)
A professional who works in projects of sponsoring organization and is responsible for planning, organizing and conducting regulated research.	Preferred (foundation metadata concept)
A progressive chronic inflammatory disease of the central nervous system with the etiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterized by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs.	Preferred (foundation metadata concept)
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.	Preferred (foundation metadata concept)
A progressive reduction in amplitude during a writing task	Preferred (foundation metadata concept)
A prolonged focal-onset clonic seizure occurring and limited to specific parts of the body such as the hand, face, arm or leg.	Preferred (foundation metadata concept)
A propensity to an adverse reaction which is not an allergy or nonallergic hypersensitivity FHIR Release 3 (STU).	Preferred (foundation metadata concept)
A propensity to developing a pathological immune process generally directed towards a foreign antigen, which results in tissue injury. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003.	Preferred (foundation metadata concept)
A propensity to developing an adverse reaction upon exposure to an agent at a dose otherwise tolerated by normal individuals. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003.	Preferred (foundation metadata concept)
A pulmonary function test that measures lung volumes	Preferred (foundation metadata concept)
A pulse with repeated irregularity	Preferred (foundation metadata concept)
A puncture action done to intentionally and non-transiently alter the body structure.	Preferred (foundation metadata concept)
A puncture into a space with an aspiration of that space	Preferred (foundation metadata concept)
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.	Preferred (foundation metadata concept)
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.	Preferred (foundation metadata concept)
A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.	Preferred (foundation metadata concept)
A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.	Preferred (foundation metadata concept)
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.	Preferred (foundation metadata concept)
A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.	Preferred (foundation metadata concept)
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.	Preferred (foundation metadata concept)
A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24.	Preferred (foundation metadata concept)
A purposeful and often repeated attempt to leave a healthcare setting.	Preferred (foundation metadata concept)
A quality of care determination performed retrospectively	Preferred (foundation metadata concept)
A radiographic technique used for showing true dimensions by moving a narrow orthogonal beam of x-rays along the length of the structure being measured.	Preferred (foundation metadata concept)
A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema.	Preferred (foundation metadata concept)
A range of disorders stemming from the single or repeated use of predominantly psychoactive substances, including certain medications. Initially, these substances provide pleasurable effects, encouraging further use. Over time, however, this can lead to dependence and severe mental and physical health issues. These disorders also cover harmful non-medical use of non-psychoactive substances. They result in significant impairment, exhibiting cognitive, behavioral, and physiological symptoms, and persist despite adverse consequences, underscoring their complex and damaging impact.	Preferred (foundation metadata concept)
A ranked assessment on a scale of 1 to 3 of the glandular/tubular differentiation in the region of malignant breast tissue. Three represents the highest level of differentiation. Used in conjunction with similar scoring of mitotic rate and nuclear pleomorphism as the basis of rendering a histologic grade of the ductal carcinoma.	Preferred (foundation metadata concept)
A ranked assessment on a scale of 1 to 3 of the mitotic activity in the region of malignant breast tissue. Three represents the highest level of mitotic rate. Used in conjunction with similar scoring of nuclear pleomorphism and glandular differentiation as the basis of rendering a histologic grade of the ductal carcinoma.	Preferred (foundation metadata concept)
A ranked assessment on a scale of 1 to 3 of the pleomorphism in the region of malignant breast tissue. Three represents the highest level of pleomorphism. Used in conjunction with similar scoring of mitotic rate and glandular differentiation as the basis of rendering a histologic grade of the ductal carcinoma.	Preferred (foundation metadata concept)
A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.	Preferred (foundation metadata concept)
A rare B-cell non-Hodgkin lymphoma characterized by the presence of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow, sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anemia. Hyperviscosity, autoimmune phenomena, and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinemia.	Preferred (foundation metadata concept)
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	Preferred (foundation metadata concept)
A rare IgG4-related disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels.	Preferred (foundation metadata concept)
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.	Preferred (foundation metadata concept)
A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weight gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome.	Preferred (foundation metadata concept)
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behavior problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed.	Preferred (foundation metadata concept)
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.	Preferred (foundation metadata concept)
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.	Preferred (foundation metadata concept)
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.	Preferred (foundation metadata concept)
A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder).	Preferred (foundation metadata concept)
A rare X-linked cerebellar ataxia with characteristics of a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.	Preferred (foundation metadata concept)
A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.	Preferred (foundation metadata concept)
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. In males the disease has characteristics of infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. The syndrome is due to Xq28 duplications (< 4 Mb) involving the dosage-sensitive gene MECP2. The pattern of inheritance is X-linked. The recurrence risk is significant if the duplication encompassing the MECP2 gene is inherited from the mother, but very low if the duplication is de novo. There is full disease penetrance in males and variable penetrance in females due to the level and type of X-inactivation.	Preferred (foundation metadata concept)
A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	Preferred (foundation metadata concept)
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.	Preferred (foundation metadata concept)
A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Preferred (foundation metadata concept)
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.	Preferred (foundation metadata concept)
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males.	Preferred (foundation metadata concept)

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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)