124274002: Deficiency of adenine phosphoribosyltransferase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of AMP pyrophorylase

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Deficiency of AMP pyrophorylase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of AMP pyrophorylase

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

203916016 Deficiency of transphosphoribosidase en Synonym (core metadata concept) Inactive Only initial character 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
1220689016 Adenine phosphoribosyl transferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4771381000241116 déficit en adénine-phosphoribosyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of AMP pyrophorylase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of AMP pyrophorylase	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
Deficiency of AMP pyrophorylase	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of AMP pyrophorylase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of AMP pyrophorylase	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adenine phosphoribosyl transferase deficiency type I	Is a	True	Deficiency of AMP pyrophorylase	Inferred relationship	Some
Adenine phosphoribosyl transferase deficiency type II	Is a	True	Deficiency of AMP pyrophorylase	Inferred relationship	Some
APRT deficiency, Japanese type	Is a	True	Deficiency of AMP pyrophorylase	Inferred relationship	Some

This concept is not in any reference sets