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 recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive infantile hypercalcemia (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	en	Attribution	Inserm Orphanet
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder)	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 leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (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 2G (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2J (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2K (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2L (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2N (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2P (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2S (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2U	en	Attribution	Inserm Orphanet
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive lower motor neuron disease with childhood onset	en	Attribution	Inserm Orphanet
Autosomal recessive lymphoproliferative disease (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 interferon gamma receptor 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency	en	Attribution	Inserm Orphanet
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive nail dysplasia	en	Attribution	Inserm Orphanet
Autosomal recessive optic atrophy type 7 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive popliteal pterygium syndrome (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive posterior column ataxia and retinitis pigmentosa (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 progressive external ophthalmoplegia	en	Attribution	Inserm Orphanet
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	en	Attribution	Inserm Orphanet
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	en	Attribution	Inserm Orphanet
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	en	Attribution	Inserm Orphanet
Autosomal recessive sideroblastic anemia (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 11 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 14	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 15	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 18 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 21	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 23 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 24	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 25 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 26 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 27	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 28	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 32 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 35	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 39 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 43 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 44 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 45 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 46 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 48 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 53 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 54 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 55 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 56 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 57 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 58	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 59	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 5A	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 60	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 61 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 62	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 63 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 64 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 66	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 67 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 69	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 70 (disorder)	en	Attribution	Inserm Orphanet
Autosomal recessive spastic paraplegia type 71	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 recessive spondylometaphyseal dysplasia Megarbane type (disorder)	en	Attribution	Inserm Orphanet
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)	en	Attribution	Inserm Orphanet
Autosomal spastic paraplegia type 30 (disorder)	en	Attribution	Inserm Orphanet
Autosomal spastic paraplegia type 72	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)