124605009: deficiëntie van ketotetrosefosfaataldolase (aandoening)

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

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

204728014 Deficiency of phosphoketotetrose aldolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204729018 Deficiency of erythrulose-1-phosphate synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204730011 Deficiency of ketotetrose-phosphate aldolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728321012 Deficiency of ketotetrose-phosphate aldolase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11274601000146117 deficiëntie van ketotetrosefosfaataldolase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11274611000146115 deficiëntie van ketotetrosefosfaataldolase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11671931000146119 deficiëntie van fosfoketotetrosealdolase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11671941000146110 deficiëntie van erytrose-1-fosfaatsynthase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11671951000146113 deficiëntie van erytrulose-1-fosfaatsynthetase 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 ketotetrose-phosphate aldolase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of ketotetrose-phosphate aldolase	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