124536006: deficiëntie van fumarylacetoacetase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of fumarylacetoacetase

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

204637016 Deficiency of beta-diketonase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
204638014 Deficiency of fumarylacetoacetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
728241017 Deficiency of fumarylacetoacetase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6851341000146115 fumarylacetoacetasedeficiëntie (aandoening) nl Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6851351000146117 fumarylacetoacetasedeficiëntie nl Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6851361000146119 deficiëntie van fumarylacetoacetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9756341000146119 deficiëntie van fumarylacetoacetase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11274261000146115 deficiëntie van bètadiketonase nl Synonym (core metadata concept) 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
Deficiency of fumarylacetoacetase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of fumarylacetoacetase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fumarylacetoacetase deficiency, acute type	Is a	True	Deficiency of fumarylacetoacetase	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Is a	True	Deficiency of fumarylacetoacetase	Inferred relationship	Some
Tyrosinemia type I (disorder)	Due to	True	Deficiency of fumarylacetoacetase	Inferred relationship	Some	1

This concept is not in any reference sets