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 2N (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2U (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 beta2-microglobulinic amyloidosis (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant brachyolmia (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant centronuclear myopathy (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant congenital benign spinal muscular atrophy	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 focal dystonia DYT25 type (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 intermediate Charcot-Marie-Tooth disease type A (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	en	Attribution	Inserm Orphanet
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	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 limb girdle muscular dystrophy type 1A (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant macrothrombocytopenia (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant mitochondrial myopathy with exercise intolerance	en	Attribution	Inserm Orphanet
Autosomal dominant myoglobinuria (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant optic atrophy and cataract (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 osteopetrosis type 2 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant polycystic kidney disease (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	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 primary hypomagnesemia with hypocalciuria (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant pterygium of conjunctiva (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant severe congenital neutropaenia	en	Attribution	Inserm Orphanet
Autosomal dominant slowed nerve conduction velocity	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 10 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 12 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 19	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 29 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 31 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 36 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 37 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 4 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 41 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 42	en	Attribution	Inserm Orphanet
Autosomal dominant spastic paraplegia type 6 (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 striatal neurodegeneration (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant thrombocytopenia with platelet secretion defect	en	Attribution	Inserm Orphanet
Autosomal dominant tubulointerstitial kidney disease	en	Attribution	Inserm Orphanet
Autosomal recessive Charcot-Marie-Tooth disease type 2X	en	Attribution	Inserm Orphanet
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder)	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 amelia (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive ataxia due to ubiquinone deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive bestrophinopathy	en	Attribution	Inserm Orphanet
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia Beauce type (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 late-onset spasticity	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive chorioretinopathy and microcephaly syndrome (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 distal spinal muscular atrophy type 3 (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 exfoliative ichthyosis (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive extra-oral halitosis	en	Attribution	Inserm Orphanet

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Reference Sets

Reference set descriptor

Back to Start

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)