124251001: deficiëntie van transketolase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of transketolase

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

203847014 Deficiency of glycoaldehydetransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203848016 Deficiency of transketolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727801015 Deficiency of transketolase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6834041000146119 transketolasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8238631000146112 deficiëntie van transketolase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364781000146118 deficiëntie van transketolase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364791000146116 deficiëntie van glycoaldehydetransferase 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 transketolase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of transketolase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Short stature, developmental delay, congenital heart defect syndrome	Due to	True	Deficiency of transketolase	Inferred relationship	Some	5

This concept is not in any reference sets