124613005: deficiëntie van citraat (Si)-synthase (aandoening)

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

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

204750010 Deficiency of synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204751014 Deficiency of oxaloacetate transacetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204752019 Deficiency of condensing enzyme en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204753012 Deficiency of citrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204754018 Deficiency of citrate condensing enzyme en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204755017 Deficiency of citrate(si)-synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728330016 Deficiency of citrate(si)-synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11267821000146114 deficiëntie van citraat (Si)-synthase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11267841000146115 deficiëntie van citraat (Si)-synthase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11669241000146110 deficiëntie van citraat (Si)-synthetase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11669251000146113 citraat (Si)-synthasedeficiëntie 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 citrate(si)-synthase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of citrate(si)-synthase	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