65791008: Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of AMP pyrophorylase\APRT deficiency, Japanese type

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

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

109300016 APRT deficiency, Japanese type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2620973011 Adenine phosphoribosyltransferase (APRT) deficiency, Japanese type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913515015 Adenine phosphoribosyltransferase deficiency, Japanese type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914959012 Adenine phosphoribosyltransferase deficiency, Japanese type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5885531000172119 déficit en adénine-phosphoribosyltransférase (APRT) type japonais fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4510201000172111 deficiëntie van adeninefosforibosyltransferase Japans type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4510211000172114 adeninefosforibosyltransferasedeficiëntie Japans type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets