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1292992004: 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

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
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
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
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

8429 members. Search Members:

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 Existential restriction modifier (core metadata concept)
Members languageDialectCode typeId value
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 organisation 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 organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Vici syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Vici syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
WT limb blood syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
WT limb blood syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) en Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wasting syndrome due to acquired immunodeficiency syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wasting syndrome due to acquired immunodeficiency syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised 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 generalised 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised 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 generalised 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Weismann Netter syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Weismann Netter syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
White fibrous papulosis of neck en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
White fibrous papulosis of neck en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
White forelock with malformations syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
White forelock with malformations syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
White platelet syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
White platelet syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wiedemann Steiner syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wiedemann Steiner syndrome (disorder) en Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Witteveen Kolk syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Witteveen Kolk syndrome en Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wolfram-like syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wolfram-like syndrome en Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wooly hair with palmoplantar keratoderma syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Wooly hair with palmoplantar keratoderma syndrome en Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 2 (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 2 (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 3 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 3 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 4 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 4 en Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 6 (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 6 (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Pettigrew syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Pettigrew syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked cerebral, cerebellar, coloboma syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked cerebral, cerebellar, coloboma syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked cleft palate and ankyloglossia (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked cleft palate and ankyloglossia (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked cone dysfunction syndrome with myopia (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked cone dysfunction syndrome with myopia (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked corneal dermoid (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked corneal dermoid (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked diffuse leiomyomatosis with Alport syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked diffuse leiomyomatosis with Alport syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked distal arthrogryposis multiplex congenita (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked distal arthrogryposis multiplex congenita (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked distal spinal muscular atrophy type 3 (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked distal spinal muscular atrophy type 3 (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked immunoneurologic disorder en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked immunoneurologic disorder en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Abidi type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Abidi type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Armfield type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Armfield type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Atkin type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Atkin type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Cabezas type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Cabezas type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Cantagrel type en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Cantagrel type en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked intellectual disability Cilliers type (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet

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