124357004: deficiëntie van deoxyribonucleïnezuurnucleotidylexotransferase (aandoening)

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

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

204134012 Deficiency of terminal deoxyribonucleotidyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204135013 Deficiency of terminal addition enzyme en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204136014 Deficiency of DNA nucleotidylexotransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970429016 Deficiency of deoxyribonucleic acid nucleotidylexotransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2970801014 Deficiency of deoxyribonucleic acid nucleotidylexotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6821241000146110 deficiëntie van deoxyribonucleïnezuurnucleotidylexotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8234621000146118 deficiëntie van DNA-nucleotidylexotransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11360601000146113 deficiëntie van deoxyribonucleïnezuurnucleotidylexotransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11669401000146111 deficiëntie van desoxyribonucleïnezuurnucleotidylexotransferase 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 DNA nucleotidylexotransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of DNA nucleotidylexotransferase	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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This concept is not in any reference sets