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


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of AMP pyrophorylase est un(e) (attribut) Deficiency of transferase true Inferred relationship Some
Deficiency of AMP pyrophorylase est un(e) (attribut) troubles du métabolisme des purines true Inferred relationship Some
Deficiency of AMP pyrophorylase est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Deficiency of AMP pyrophorylase localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Deficiency of AMP pyrophorylase survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
APRT deficiency, Japanese type est un(e) (attribut) True Deficiency of AMP pyrophorylase Inferred relationship Some
Adenine phosphoribosyl transferase deficiency type I est un(e) (attribut) True Deficiency of AMP pyrophorylase Inferred relationship Some
Adenine phosphoribosyl transferase deficiency type II est un(e) (attribut) True Deficiency of AMP pyrophorylase Inferred relationship Some

This concept is not in any reference sets

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