297257004: Glycerol kinase deficiency - contiguous gene syndrome (disorder)

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

\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of glycerol kinase\Glycerol kinase deficiency - contiguous gene syndrome

\Disorder of carbohydrate metabolism\Disorder of glycerol metabolism\Deficiency of glycerol kinase\Glycerol kinase deficiency - contiguous gene syndrome

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

437746013 Glycerol kinase deficiency - contiguous gene syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

692569014 Glycerol kinase deficiency - contiguous gene syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

976451000052110 glycerolkinasbrist, angränsande gensyndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycerol kinase deficiency - contiguous gene syndrome	Is a	Deficiency of glycerol kinase	true	Inferred relationship	Some
Glycerol kinase deficiency - contiguous gene syndrome	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Group

This concept is not in any reference sets