124593001: deficiëntie van pyruvaatdecarboxylase (aandoening)

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

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

204698012 Deficiency of pyruvic decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204699016 Deficiency of alpha-ketoacid carboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204700015 Deficiency of alpha-carboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204701016 Deficiency of pyruvate decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728307010 Deficiency of pyruvate decarboxylase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6914611000146113 deficiëntie van pyruvaatdecarboxylase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9738181000146113 deficiëntie van pyruvaatdecarboxylase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364291000146112 deficiëntie van alfacarboxylase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364301000146111 deficiëntie van alfaketonzuurcarboxylase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11793971000146116 pyruvaat-decarboxylasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13083871000146115 Erfelijke stofwisselingsziekte die valt onder de mitochondriale ziekten. nl Definition Active Entire term case sensitive (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 pyruvate decarboxylase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of pyruvate decarboxylase	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