124280005: deficiëntie van amidofosforibosyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of amidophosphoribosyltransferase

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

203940012 Deficiency of phosphoribosyldiphosphate 5-amidotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203941011 Deficiency of glutamine phosphoribosylpyrophosphate amidotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203942016 Deficiency of amidophosphoribosyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727860017 Deficiency of amidophosphoribosyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6870831000146114 amidofosforibosyltransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7149781000146116 tekort aan amidofosforibosyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8679401000146111 deficiëntie van amidofosforibosyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8679411000146113 deficiëntie van amidofosforibosyltransferase nl Synonym (core metadata concept) Active Entire term 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
Deficiency of amidophosphoribosyltransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of amidophosphoribosyltransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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Group

This concept is not in any reference sets