1292992004: Component annotation with string value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Component annotation with string value reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)

5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Component annotation with string value reference set (foundation metadata concept)	Is a	Reference set	true	Inferred relationship	Some

Members	languageDialectCode	typeId	value
Union for International Cancer Control ypT1a (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT1a1 (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT1a2 (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1b (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1b1 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1b2 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1b3 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT1c (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1c1 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1c2 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1c3 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1d (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT1mi (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT2 (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT2a (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT2a1 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT2a2 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT2b (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT2c (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT2d (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT3 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT3a (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT3b (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT3c (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT3d (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT4 (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT4a (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT4b (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT4c (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypT4d (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypT4e (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypTX (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypTa (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
ypTis (UICC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypTis(DCIS) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypTis(LAMN) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypTis(LCIS) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control ypTis(Paget) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes foamy aspect.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare respiratory disorder characterized by major reduction of diaphragmatic contractile force together with fiber atrophy in the diaphragm and other respiratory muscles as a consequence of invasive mechanical ventilation. Reduction of diaphragmatic contractile force may be observed even within hours after intubation. The condition can increase weaning time and affects weaning outcome, mortality, and long-term clinical outcomes.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, life-threatening, non-inflammatory vasculopathy characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually causes tissue necrosis. Depending on the affected organ, patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. The disease predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, syndromic intellectual disability characterized by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterised by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhoea or weakness and fever which have lasted at least 30 days and are not related to an infection.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
White platelet syndrome (WPS) is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Wooly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability have been reported in some individuals.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
5276957018	Component annotation with string value reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
5276958011	Component annotation with string value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)