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124322002: Deficiency of glycerol kinase (disorder)

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
204047017 Deficiency of glycerol kinase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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
3451151001000114 Glycerol-Kinase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4772281000241115 déficit en glycérol-kinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4772281000241115 déficit en glycérol-kinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451151001000114 Glycerol-Kinase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of glycerol kinase Is a Disorder of glycerol metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glycerol kinase Is a Deficiency of transferase true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glycerol kinase Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Glycerol kinase deficiency - isolated Is a True Deficiency of glycerol kinase Inferred relationship Existential restriction modifier (core metadata concept)
Mikrodeletionssyndrom Xp21 Is a False Deficiency of glycerol kinase Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Is a True Deficiency of glycerol kinase Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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