238009001: Adenine phosphoribosyl transferase deficiency type I (disorder)

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 I

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

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

356740015 Adenine phosphoribosyl transferase deficiency type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626827014 Adenine phosphoribosyl transferase deficiency type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356740015 Adenine phosphoribosyl transferase deficiency type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626827014 Adenine phosphoribosyl transferase deficiency type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5021421000241115 déficit en adénine-phosphoribosyl transférase de type I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5021421000241115 déficit en adénine-phosphoribosyl transférase de type I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adenine phosphoribosyl transferase deficiency type I	Is a	Deficiency of AMP pyrophorylase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Adenine phosphoribosyl transferase deficiency type I	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Adenine phosphoribosyl transferase deficiency type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

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Reference Sets