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238073001: geïsoleerde deficiëntie van alkyldihydroxyacetonfosfaatsynthase (aandoening)


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)


0 descendants.

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

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