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124536006: Deficiency of fumarylacetoacetase (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
204637016 Deficiency of beta-diketonase en Synonym Active Entire term case insensitive SNOMED CT core module
204638014 Deficiency of fumarylacetoacetase en Synonym Active Entire term case insensitive SNOMED CT core module
728241017 Deficiency of fumarylacetoacetase (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of fumarylacetoacetase Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier
Deficiency of fumarylacetoacetase Finding site Body system structure false Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Fumarylacetoacetase deficiency, acute type Is a True Deficiency of fumarylacetoacetase Inferred relationship Existential restriction modifier
Fumarylacetoacetase deficiency, chronic type Is a True Deficiency of fumarylacetoacetase Inferred relationship Existential restriction modifier
Tyrosinemia type I Due to True Deficiency of fumarylacetoacetase Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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