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 (disorder)\Deficiency of AMP pyrophorylase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\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

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

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 Only initial character 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 Only initial character 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

3388571001000117 Adenin-Phosphoribosyl-Transferase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4771381000241116 déficit en adénine-phosphoribosyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4771381000241116 déficit en adénine-phosphoribosyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3388571001000117 Adenin-Phosphoribosyl-Transferase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (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	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of AMP pyrophorylase	Is a	Disorder of purine metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of AMP pyrophorylase	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of AMP pyrophorylase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of AMP pyrophorylase	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adenine phosphoribosyl transferase deficiency type I	Is a	True	Deficiency of AMP pyrophorylase	Inferred relationship	Existential restriction modifier (core metadata concept)
Adenine phosphoribosyl transferase deficiency type II	Is a	True	Deficiency of AMP pyrophorylase	Inferred relationship	Existential restriction modifier (core metadata concept)
Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)	Is a	True	Deficiency of AMP pyrophorylase	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets