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\Isolated dihydroxyacetone phosphate acyltransferase deficiency

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

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

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

14045141000172115 déficit isolé en dihydroxyacétone phosphate acyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14045151000172118 déficit isolé en glycéronephosphate O-acyltransférase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4810061000172115 geïsoleerde deficiëntie van dihydroxyacetonfosfaatacyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4810071000172112 geïsoleerde DHAPAT-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4810081000172110 geïsoleerde dihydroxyacetonfosfaatacyltransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated dihydroxyacetone phosphate acyltransferase deficiency	Is a	Loss of single peroxisomal function	true	Inferred relationship	Some
Isolated dihydroxyacetone phosphate acyltransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Isolated dihydroxyacetone phosphate acyltransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets