238010006: adeninefosforibosyltransferasedeficiëntie type II (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of AMP pyrophorylase\Adenine phosphoribosyl transferase deficiency type II

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

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

356741016 Adenine phosphoribosyl transferase deficiency type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626828016 Adenine phosphoribosyl transferase deficiency type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5900941000146112 adeninefosforibosyltransferasedeficiëntie type II nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5900951000146110 adeninefosforibosyltransferasedeficiëntie type II (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6096771000146112 deficiëntie van adeninefosforibosyltransferase type II nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adenine phosphoribosyl transferase deficiency type II	Is a	Deficiency of AMP pyrophorylase	true	Inferred relationship	Some
Adenine phosphoribosyl transferase deficiency type II	Occurrence	Congenital	false	Inferred relationship	Some
Adenine phosphoribosyl transferase deficiency type II	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets