238007004: partiële deficiëntie van hypoxanthineguaninefosforibosyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of hypoxanthine phosphoribosyltransferase\Partial hypoxanthine-guanine phosphoribosyltransferase deficiency

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

356737015 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356738013 Partial HGPRT deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626824019 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6897281000146115 partiële deficiëntie van hypoxanthineguaninefosforibosyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6897301000146119 partiële deficiëntie van hypoxanthineguaninefosforibosyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7122871000146117 partiële HGPRT-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7153141000146110 gedeeltelijk tekort aan HGPRT 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
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Is a	Hypoxanthine-guanine phosphoribosyltransferase deficiency	false	Inferred relationship	Some
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Is a	Deficiency of hypoxanthine phosphoribosyltransferase	true	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets