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
Arthrogryposis and ectodermal dysplasia syndrome	en	Attribution	Inserm Orphanet
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	en	Attribution	Inserm Orphanet
Arthrogryposis multiplex congenita	en	Attribution	Inserm Orphanet
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	en	Attribution	Inserm Orphanet
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	en	Attribution	Inserm Orphanet
Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Aspartylglucosaminuria	en	Attribution	Inserm Orphanet
Ataxia pancytopenia syndrome	en	Attribution	Inserm Orphanet
Ataxia telangiectasia variant	en	Attribution	Inserm Orphanet
Ataxia with deafness and intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Ataxia with tapetoretinal degeneration syndrome	en	Attribution	Inserm Orphanet
Ataxia, photosensitivity, short stature syndrome	en	Attribution	Inserm Orphanet
Atelosteogenesis type 1 (disorder)	en	Attribution	Inserm Orphanet
Atelosteogenesis type 3 (disorder)	en	Attribution	Inserm Orphanet
Athabaskan brainstem dysgenesis syndrome (disorder)	en	Attribution	Inserm Orphanet
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	en	Attribution	Inserm Orphanet
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	en	Attribution	Inserm Orphanet
Attenuated Chédiak-Higashi syndrome (disorder)	en	Attribution	Inserm Orphanet
Attenuated familial adenomatous polyposis (disorder)	en	Attribution	Inserm Orphanet
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder)	en	Attribution	Inserm Orphanet
Atypical Meigs syndrome (disorder)	en	Attribution	Inserm Orphanet
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	en	Attribution	Inserm Orphanet
Atypical Rett syndrome (disorder)	en	Attribution	Inserm Orphanet
Atypical Werner syndrome (disorder)	en	Attribution	Inserm Orphanet
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder)	en	Attribution	Inserm Orphanet
Atypical hypotonia cystinuria syndrome (disorder)	en	Attribution	Inserm Orphanet
Atypical juvenile parkinsonism (disorder)	en	Attribution	Inserm Orphanet
Atypical lichen myxedematosus (disorder)	en	Attribution	Inserm Orphanet
Atypical papilloma of choroid plexus	en	Attribution	Inserm Orphanet
Audiogenic epilepsy	en	Attribution	Inserm Orphanet
Auditory neuropathy, optic atrophy syndrome (disorder)	en	Attribution	Inserm Orphanet
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Auricular abnormality, cleft lip, ocular abnormality syndrome	en	Attribution	Inserm Orphanet
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)	en	Attribution	Inserm Orphanet
Autism spectrum disorder due to AUTS2 deficiency	en	Attribution	Inserm Orphanet
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	en	Attribution	Inserm Orphanet
Autoimmune encephalopathy with parasomnia and obstructive sleep apnoea	en	Attribution	Inserm Orphanet
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	en	Attribution	Inserm Orphanet
Autoimmune hemolytic anemia mixed type (disorder)	en	Attribution	Inserm Orphanet
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder)	en	Attribution	Inserm Orphanet
Autoimmune interstitial lung disease, arthritis syndrome (disorder)	en	Attribution	Inserm Orphanet
Autoimmune limbic encephalitis (disorder)	en	Attribution	Inserm Orphanet
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	en	Attribution	Inserm Orphanet
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	en	Attribution	Inserm Orphanet
Autoimmune necrotizing myopathy (disorder)	en	Attribution	Inserm Orphanet
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	en	Attribution	Inserm Orphanet
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (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 2F (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2G	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 2K (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder)	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2O	en	Attribution	Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2Q	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 adult-onset proximal spinal muscular atrophy	en	Attribution	Inserm Orphanet
Autosomal dominant aplasia and myelodysplasia (disorder)	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 childhood-onset proximal spinal muscular atrophy (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 focal non-epidermolytic palmoplantar keratoderma with plantar blistering	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

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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)