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124536006: Deficiency of fumarylacetoacetase (disorder)


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


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 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

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