238073001: geïsoleerde deficiëntie van alkyldihydroxyacetonfosfaatsynthase (aandoening)

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 alkyldihydroxyacetone phosphate synthase deficiency

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Isolated alkyldihydroxyacetone phosphate synthase 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

356861015 Isolated alkyldihydroxyacetone phosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626905016 Isolated alkyldihydroxyacetone phosphate synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6047721000146119 geïsoleerde alkyldihydroxyacetonfosfaatsynthetasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6105331000146114 geïsoleerde deficiëntie van alkyldihydroxyacetonfosfaatsynthase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8715551000146111 geïsoleerde deficiëntie van alkyldihydroxyacetonfosfaatsynthase (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
Isolated alkyldihydroxyacetone phosphate synthase deficiency	Is a	Loss of single peroxisomal function	true	Inferred relationship	Some
Isolated alkyldihydroxyacetone phosphate synthase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated alkyldihydroxyacetone phosphate synthase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets