124703008: deficiëntie van cholaat-co-enzym A-ligase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of cholate-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

205003016 Deficiency of choloyl-CoA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

205004010 Deficiency of cholate-CoA ligase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728434014 Deficiency of cholate-CoA ligase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6872431000146110 cholaat-CoA-ligasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7081741000146113 cholaatco-enzym-A-ligasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7153161000146111 deficiëntie van cholaat-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)

8281061000146112 tekort aan cholaat-coenzym-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)

8639921000146111 deficiëntie van cholaat-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)

8706271000146113 deficiëntie van cholaat-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)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets