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124274002: Deficiency of adenine phosphoribosyltransferase (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
203917013 Deficiency of AMP pyrophorylase en Synonym Active Only initial character case insensitive SNOMED CT core module
203918015 Deficiency of adenine phosphoribosyltransferase en Synonym Active Entire term case insensitive SNOMED CT core module
727844016 Deficiency of adenine phosphoribosyltransferase (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1220689016 Adenine phosphoribosyl transferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of adenine phosphoribosyltransferase Is a Deficiency of transferase true Inferred relationship Existential restriction modifier
Deficiency of adenine phosphoribosyltransferase Is a Disorder of purine metabolism true Inferred relationship Existential restriction modifier
Deficiency of adenine phosphoribosyltransferase Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Deficiency of adenine phosphoribosyltransferase Finding site Body system structure false Inferred relationship Existential restriction modifier
Deficiency of adenine phosphoribosyltransferase Occurrence Congenital false Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Adenine phosphoribosyl transferase deficiency type I Is a True Deficiency of adenine phosphoribosyltransferase Inferred relationship Existential restriction modifier
Adenine phosphoribosyl transferase deficiency type II Is a True Deficiency of adenine phosphoribosyltransferase Inferred relationship Existential restriction modifier
Adenine phosphoribosyltransferase deficiency, Japanese type Is a True Deficiency of adenine phosphoribosyltransferase Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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