124699005: deficiëntie van langeketenvetzuur-co-enzym A-ligase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of long-chain-fatty-acid-CoA ligase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204989011 Deficiency of fatty acid thiokinase (long chain) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204990019 Deficiency of acyl-CoA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204991015 Deficiency of long-chain-fatty-acid-CoA ligase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728428019 Deficiency of long-chain-fatty-acid-CoA ligase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

11361381000146116 deficiëntie van langeketenvetzuur-co-enzym A-ligase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11361391000146119 deficiëntie van langeketenvetzuur-CoA-ligase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11361401000146116 deficiëntie van langeketenvetzuur-co-enzym A-ligase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11363131000146119 deficiëntie van acyl-CoA-synthetase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11363141000146110 deficiëntie van vetzuurthiokinase (lange keten) nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of long-chain-fatty-acid-CoA ligase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of long-chain-fatty-acid-CoA ligase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets