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 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)
A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene with characteristics of epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene with characteristics of neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses and marked serum immunoglobulin E elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation characterized by chronic non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia and low serum ceruloplasmin.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation with characteristics of infantile onset of global developmental delay, severe intellectual disability, hypotonia and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections and osteopenia among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialotransferrin and increased asialotransferrin, monosialotransferrin, disialotransferrin, and trisialotransferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.	Preferred (foundation metadata concept)
A rare congenital disorder of glycosylation with characteristics of neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis or cirrhosis) and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy and enlarged ventricles.	Preferred (foundation metadata concept)
A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner.	Preferred (foundation metadata concept)
A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner.	Preferred (foundation metadata concept)
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.	Preferred (foundation metadata concept)
A rare congenital facial abnormality with manifestation of failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye. The disorder is therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. Also associated with other craniofacial abnormalities such as orbital anomalies and cleft lip/palate.	Preferred (foundation metadata concept)
A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986.	Preferred (foundation metadata concept)
A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium. It is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.	Preferred (foundation metadata concept)
A rare congenital heart malformation with characteristics of tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.	Preferred (foundation metadata concept)
A rare congenital heart malformation with characteristics of underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. Manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.	Preferred (foundation metadata concept)
A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.	Preferred (foundation metadata concept)
A rare congenital hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.	Preferred (foundation metadata concept)
A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	Preferred (foundation metadata concept)
A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.	Preferred (foundation metadata concept)
A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	Preferred (foundation metadata concept)
A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.	Preferred (foundation metadata concept)
A rare congenital limb malformation syndrome with characteristics of a highly variable combination of congenital anomalies of the femur, fibula and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.	Preferred (foundation metadata concept)
A rare congenital limb malformation syndrome with characteristics of facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.	Preferred (foundation metadata concept)
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The etiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported.	Preferred (foundation metadata concept)
A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers and cap lesions.	Preferred (foundation metadata concept)
A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies.	Preferred (foundation metadata concept)
A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22.	Preferred (foundation metadata concept)
A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32.	Preferred (foundation metadata concept)
A rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	Preferred (foundation metadata concept)
A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	Preferred (foundation metadata concept)
A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed.	Preferred (foundation metadata concept)
A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	Preferred (foundation metadata concept)
A rare congenital non-syndromic heart malformation with characteristics of more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.	Preferred (foundation metadata concept)
A rare congenital non-syndromic nose and cavum malformation with characteristics of the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.	Preferred (foundation metadata concept)
A rare congenital optic disc excavation with characteristics of deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.	Preferred (foundation metadata concept)
A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.	Preferred (foundation metadata concept)
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.	Preferred (foundation metadata concept)
A rare congenital vascular anomaly syndrome characterized by venous or on occasion arterial malformations that lead to soft tissue hypertrophy and bone hypoplasia. An affected limb is generally shortened, highly deformed, painful and edematous with associated bone and muscle hypotrophy. Single parts or multiple small parts of limbs are typically affected but more extensive involvement including complete extremity shoulder girdle and axilla have been reported.	Preferred (foundation metadata concept)
A rare congenital vascular malformation of the major vessels with characteristics of a persistent left superior vena cava that drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and this is discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolization may be associated.	Preferred (foundation metadata concept)
A rare congenital, tricuspid valve malformation with characteristics of tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.	Preferred (foundation metadata concept)
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet, muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and more variably osteopenia, delayed motor development and bowing of the limbs. Gene-specific features with variable presentation are additionally observed in each subtype.	Preferred (foundation metadata concept)
A rare copper-overload liver disease with rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency. Specific pathological aspects; pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.	Preferred (foundation metadata concept)
A rare coronary artery congenital malformation with characteristics of anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death especially during exercise.	Preferred (foundation metadata concept)
A rare cranial malformation syndrome with characteristics of premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour and dysmorphic facial features. Short stature, developmental delay, epilepsy and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.	Preferred (foundation metadata concept)
A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2.	Preferred (foundation metadata concept)
A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.	Preferred (foundation metadata concept)
A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.	Preferred (foundation metadata concept)
A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	Preferred (foundation metadata concept)
A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable.	Preferred (foundation metadata concept)
A rare developmental anomaly syndrome with characteristics of severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.	Preferred (foundation metadata concept)
A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis disorder with characteristics of spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis syndrome with characteristics of Robin sequence (micrognathia, glossoptosis, cleft palate), atrial septal defect, persistence of the left superior vena cava and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. There is evidence this syndrome is caused by mutation in the RBM10 gene on chromosome Xp11.23.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis syndrome with characteristics of congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (for example preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia) along with anal anomalies such as anal atresia and rectovesical fistula.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis syndrome, with characteristics of normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), mullerian duct anomalies (for example complete absence of the uterus and vagina, bicornuate uterus) and imperforate anus.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with characteristics of mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set and posteriorly angulated ears, bulbous nose, long/flat philtrum and bow-shaped upper lip). Skeletal anomalies such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with characteristics of severe, unilateral or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligo syndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (for example short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with characteristics of underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with characteristics of unilateral duplication of an eye which may appear as a synophthalmia in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with characteristics of unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with characteristics of variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with characteristics of ventral, unilateral or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (spigelian hernia), associated with ipsilateral or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.	Preferred (foundation metadata concept)
A rare developmental defect during embryogenesis with the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet and hypertrichosis.	Preferred (foundation metadata concept)
A rare developmental defect of the eye with characteristics of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.	Preferred (foundation metadata concept)
A rare developmental defect with characteristics of an anomalous connection of bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.	Preferred (foundation metadata concept)
A rare developmental defect with characteristics of an anomalous connection of trachea with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.	Preferred (foundation metadata concept)
A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss.	Preferred (foundation metadata concept)
A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities.	Preferred (foundation metadata concept)
A rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes. The syndrome has characteristics of a spectrum of developmental anomalies that include distinctive facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti.	Preferred (foundation metadata concept)
A rare 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 disease with characteristics of exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness and myoglobinuria), tachycardia and in severe cases multiorgan failure.	Preferred (foundation metadata concept)
A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene.	Preferred (foundation metadata concept)
A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.	Preferred (foundation metadata concept)
A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma).	Preferred (foundation metadata concept)
A rare disease with three inherited morbidities; idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality.	Preferred (foundation metadata concept)
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A rare disorder characterized by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Celiac disease and epilepsy manifest at a variable age. Celiac disease can present in a typical form with onset in the first 2 years of life. Celiac disease may also present in silent or latent forms, which are characterized in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of celiac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.	Preferred (foundation metadata concept)
A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare disorder leading to a deficiency of complex I of the respiratory chain with characteristics of neurological dysfunction, hepatic failure and cardiomyopathy. Caused by a mutation in the ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain. The mode of inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11.	Preferred (foundation metadata concept)
A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.	Preferred (foundation metadata concept)
A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.	Preferred (foundation metadata concept)
A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.	Preferred (foundation metadata concept)
A rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.	Preferred (foundation metadata concept)
A rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.	Preferred (foundation metadata concept)
A rare disorder of ornithine metabolism with characteristics of global developmental delay, alopecia, macrocephaly and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism and clinodactyly among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.	Preferred (foundation metadata concept)
A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	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)