124660002: deficiëntie van 3-hydroxybutyrylco-enzym-A-epimerase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of 3-hydroxybutyryl-CoA epimerase

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

204871011 Deficiency of 3-hydroxybutyryl-CoA epimerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970836013 Deficiency of 3-hydroxybutyryl-coenzyme A epimerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971701014 Deficiency of 3-hydroxybutyryl-coenzyme A epimerase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7063421000146113 deficiëntie van 3-hydroxybutyrylco-enzym-A-epimerase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7149191000146118 3-hydroxybutyryl-CoA-epimerasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7149201000146116 3-hydroxybutyrylco-enzym-A-epimerasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7149221000146112 tekort aan 3-hydroxybutyryl-CoA-epimerase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8636531000146110 deficiëntie van 3-hydroxybutyrylco-enzym-A-epimerase (aandoening) nl Fully specified name 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 3-hydroxybutyryl-CoA epimerase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of 3-hydroxybutyryl-CoA epimerase	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