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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 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)

5247 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 Some
Members languageDialectCode typeId value
DK phocomelia syndrome (disorder) en Attribution Inserm Orphanet
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) en Attribution Inserm Orphanet
DNA2-related mitochondrial DNA deletion syndrome en Attribution Inserm Orphanet
Dandy-Walker malformation with postaxial polydactyly syndrome en Attribution Inserm Orphanet
De novo thrombotic microangiopathy following transplant of kidney (disorder) en Attribution Inserm Orphanet
Deaf blind hypopigmentation syndrome Yemenite type (disorder) en Attribution Inserm Orphanet
Deafness and hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Deafness and intellectual disability Martin Probst type syndrome (disorder) en Attribution Inserm Orphanet
Deafness and myopia syndrome (disorder) en Attribution Inserm Orphanet
Deafness and oligodontia syndrome (disorder) en Attribution Inserm Orphanet
Deafness craniofacial syndrome (disorder) en Attribution Inserm Orphanet
Deafness with cataract and skeletal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) en Attribution Inserm Orphanet
Deafness with malformation of ear and facial palsy syndrome (disorder) en Attribution Inserm Orphanet
Deafness with onychodystrophy syndrome en Attribution Inserm Orphanet
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) en Attribution Inserm Orphanet
Deafness, enamel hypoplasia, nail defect syndrome (disorder) en Attribution Inserm Orphanet
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome en Attribution Inserm Orphanet
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) en Attribution Inserm Orphanet
Lowe Kohn Cohen syndrome en Attribution Inserm Orphanet
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Deafness, vitiligo, achalasia syndrome en Attribution Inserm Orphanet
Dedicator of cytokinesis 2 deficiency (disorder) en Attribution Inserm Orphanet
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) en Attribution Inserm Orphanet
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) en Attribution Inserm Orphanet
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) en Attribution Inserm Orphanet
Deficiency of alpha-ketoglutarate dehydrogenase (disorder) en Attribution Inserm Orphanet
Deficiency of dimethylglycine dehydrogenase (disorder) en Attribution Inserm Orphanet
Deficiency of galactokinase (disorder) en Attribution Inserm Orphanet
Deficiency of galactose mutarotase en Attribution Inserm Orphanet
Deficiency of interleukin 36 receptor antagonist en Attribution Inserm Orphanet
Deficiency of leukotriene C4 synthase (disorder) en Attribution Inserm Orphanet
Deficiency of monoamine oxidase A (disorder) en Attribution Inserm Orphanet
Deficiency of phosphoserine aminotransferase (disorder) en Attribution Inserm Orphanet
Dehydrated hereditary stomatocytosis (disorder) en Attribution Inserm Orphanet
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) en Attribution Inserm Orphanet
Deletion 5q35 en Attribution Inserm Orphanet
Delta-4-3-oxosteroid-5-beta-reductase deficiency en Attribution Inserm Orphanet
Dendritic cell sarcoma en Attribution Inserm Orphanet
Dense deposit disease (disorder) en Attribution Inserm Orphanet
Dentin dysplasia with sclerotic bone syndrome en Attribution Inserm Orphanet
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Dermatoleukodystrophy en Attribution Inserm Orphanet
Dermatoosteolysis Kirghizian type (disorder) en Attribution Inserm Orphanet
Dermatosparaxis Ehlers-Danlos syndrome (disorder) en Attribution Inserm Orphanet
Dermo-odonto dysplasia (disorder) en Attribution Inserm Orphanet
Dermoid cyst of face (disorder) en Attribution Inserm Orphanet
Dermoid cyst of neck (disorder) en Attribution Inserm Orphanet
Dermotrichic syndrome en Attribution Inserm Orphanet
Desmin related myopathy with Mallory body-like inclusions (disorder) en Attribution Inserm Orphanet
Desmin-related myofibrillar myopathy (disorder) en Attribution Inserm Orphanet
Desmoplastic infantile astrocytoma and ganglioglioma en Attribution Inserm Orphanet
Developmental and epileptic encephalopathy en Attribution International League Against Epilepsy
Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (disorder) en Attribution International League Against Epilepsy
Developmental and speech delay due to SRY-box 5 deficiency (disorder) en Attribution Inserm Orphanet
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) en Attribution Inserm Orphanet
Developmental delay with autism spectrum disorder and gait instability (disorder) en Attribution Inserm Orphanet
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) en Attribution Inserm Orphanet
Intermediate DEND syndrome en Attribution Inserm Orphanet
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) en Attribution Inserm Orphanet
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome en Attribution Inserm Orphanet
Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder) en Attribution Inserm Orphanet
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) en Attribution Inserm Orphanet
Developmental malformation, deafness, dystonia syndrome (disorder) en Attribution Inserm Orphanet
Woodhouse Sakati syndrome en Attribution Inserm Orphanet
Diabetic embryopathy (disorder) en Attribution Inserm Orphanet
Dianzani autoimmune lymphoproliferative disease (disorder) en Attribution Inserm Orphanet
Diaphanospondylodysostosis (disorder) en Attribution Inserm Orphanet
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome en Attribution Inserm Orphanet
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) en Attribution Inserm Orphanet
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) en Attribution Inserm Orphanet
Diaphyseal dysplasia en Attribution Inserm Orphanet
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency en Attribution Inserm Orphanet
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency en Attribution Inserm Orphanet
Dicarboxylic aminoaciduria syndrome (disorder) en Attribution Inserm Orphanet
Didymosis aplasticosebacea (disorder) en Attribution Inserm Orphanet
Diencephalic mesencephalic junction dysplasia (disorder) en Attribution Inserm Orphanet
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome en Attribution Inserm Orphanet
Diffuse alveolar hemorrhage en Attribution Inserm Orphanet
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (disorder) en Attribution Inserm Orphanet
Diffuse leptomeningeal melanocytosis en Attribution Inserm Orphanet
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) en Attribution Inserm Orphanet
Diffuse palmoplantar keratoderma with painful fissures en Attribution Inserm Orphanet
Digenic haemochromatosis en Attribution Inserm Orphanet
Digestive duplication cyst of tongue (disorder) en Attribution Inserm Orphanet
Digital extensor muscle aplasia with polyneuropathy (disorder) en Attribution Inserm Orphanet
Dihydropyrimidine dehydrogenase deficiency en Attribution Inserm Orphanet
Dilatation of common bile duct due to harmful use of ketamine (disorder) en Attribution Inserm Orphanet
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Discrete papular lichen myxedematosus (disorder) en Attribution Inserm Orphanet
Dislocation of hip and facial dysmorphism syndrome en Attribution Inserm Orphanet
Radiation-induced plexopathy en Attribution Inserm Orphanet
Disorder of sex development with intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Distal 16p11.2 microdeletion syndrome en Attribution Inserm Orphanet
Distal 17p13.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Distal 17p13.3 microdeletion syndrome en Attribution Inserm Orphanet
Distal 22q11.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Distal 22q11.2 microduplication syndrome (disorder) en Attribution Inserm Orphanet
Distal 7q11.23 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Distal 7q11.23 microduplication syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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