238072006: Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Isolated dihydroxyacetone phosphate acyltransferase deficiency (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

356859012 Isolated DHAP-AT - dihydroxyacetone phosphate acyltransferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356860019 Isolated dihydroxyacetone phosphate acyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626904017 Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

356859012 Isolated DHAP-AT - dihydroxyacetone phosphate acyltransferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356860019 Isolated dihydroxyacetone phosphate acyltransferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356860019 Isolated dihydroxyacetone phosphate acyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626904017 Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626904017 Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6381861000241115 déficit isolé en dihydroxyacétone phosphate acyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6381871000241111 déficit isolé en glycéronephosphate O-acyltransférase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6381861000241115 déficit isolé en dihydroxyacétone phosphate acyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6381871000241111 déficit isolé en glycéronephosphate O-acyltransférase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)	Is a	Loss of single peroxisomal function (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

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This concept is not in any reference sets