124322002: glycerolkinasedeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of glycerol kinase

\Disorder of carbohydrate metabolism\Disorder of glycerol metabolism\Deficiency of glycerol kinase

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

204047017 Deficiency of glycerol kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473260016 Glycerol kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473261017 GKD - Glycerol kinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

473262012 GK1 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

473263019 Familial hyperglycerolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473264013 Hyperglycerolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473265014 Familial hyperglycerolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473266010 Hyperglycerolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727945016 Deficiency of glycerol kinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

364741000146114 glycerolkinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

364751000146112 glycerolkinasedeficiëntie (aandoening) nl Fully specified name 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 glycerol kinase	Is a	Disorder of glycerol metabolism	true	Inferred relationship	Some
Deficiency of glycerol kinase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of glycerol kinase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycerol kinase deficiency - isolated	Is a	True	Deficiency of glycerol kinase	Inferred relationship	Some
glycerolkinasedeficiëntie bij 'contiguous gene deletion'-syndroom (aandoening)	Is a	False	Deficiency of glycerol kinase	Inferred relationship	Some
Xp21 deletion syndrome (disorder)	Is a	True	Deficiency of glycerol kinase	Inferred relationship	Some

This concept is not in any reference sets