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
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2DD	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2W	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2Z	en	Attribution	Inserm Orphanet
Autosomal dominant brachyolmia (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant centronuclear myopathy (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant deafness with onychodystrophy syndrome	en	Attribution	Inserm Orphanet
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	en	Attribution	Inserm Orphanet
Autosomal dominant dopa responsive dystonia (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome	en	Attribution	Inserm Orphanet
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant keratitis (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant late onset Parkinson disease (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant late-onset retinal degeneration (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant mitochondrial myopathy with exercise intolerance	en	Attribution	Inserm Orphanet
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant optic atrophy classic form (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant optic atrophy plus syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant osteopetrosis type 1	en	Attribution	Inserm Orphanet
Autosomal dominant popliteal pterygium syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant pterygium of conjunctiva (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 73	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 9A	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 9B	en	Attribution	Inserm Orphanet
Autosomal dominant spondylocostal dysostosis (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant thrombocytopenia with platelet secretion defect	en	Attribution	Inserm Orphanet
Autosomal recessive Charcot-Marie-Tooth disease type 2X	en	Attribution	Inserm Orphanet
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency	en	Attribution	Inserm Orphanet
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive distal osteolysis syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive dopa responsive dystonia (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive dysgenesis of anterior segment of eye	en	Attribution	Inserm Orphanet
Autosomal recessive extra-oral halitosis	en	Attribution	Inserm Orphanet
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	en	Attribution	Inserm Orphanet
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive isolated optic atrophy (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2A (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2D (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency	en	Attribution	Inserm Orphanet
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	en	Attribution	Inserm Orphanet
Autosomal recessive primary microcephaly (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive sideroblastic anemia (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 11 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 39 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 74	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 75 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 76 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 77	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 78 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 9B	en	Attribution	Inserm Orphanet
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)	en	Attribution	Inserm Orphanet
Osteonecrosis of jaw	en	Attribution	Inserm Orphanet
BENTA disease	en	Attribution	Inserm Orphanet
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)	en	Attribution	Inserm Orphanet
Baraitser Winter cerebrofrontofacial syndrome (disorder)	en	Attribution	Inserm Orphanet
Basel Vanagaite Smirin Yosef syndrome (disorder)	en	Attribution	Inserm Orphanet
Becker nevus syndrome	en	Attribution	Inserm Orphanet
Behavioral variant of frontotemporal dementia (disorder)	en	Attribution	Inserm Orphanet
Benign adult familial myoclonic epilepsy (disorder)	en	Attribution	Inserm Orphanet
Benign intraocular medulloepithelioma (disorder)	en	Attribution	Inserm Orphanet
Benign metanephric tumour	en	Attribution	Inserm Orphanet
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	en	Attribution	Inserm Orphanet
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)	en	Attribution	Inserm Orphanet
Bethlem myopathy (disorder)	en	Attribution	Inserm Orphanet
Biemond syndrome type 2 (disorder)	en	Attribution	Inserm Orphanet
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)	en	Attribution	Inserm Orphanet
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)	en	Attribution	Inserm Orphanet
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)	en	Attribution	Inserm Orphanet
Bilateral microtia with deafness and cleft palate syndrome (disorder)	en	Attribution	Inserm Orphanet
Bile acid coenzyme A ligase deficiency and defective amidation (disorder)	en	Attribution	Inserm Orphanet
Biliary atresia with splenic malformation syndrome (disorder)	en	Attribution	Inserm Orphanet

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Reference Sets

Reference set descriptor

GB English

US English

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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)