124355007: deficiëntie van ethanolaminefosfaatcytidylyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of ethanolamine-phosphate cytidylyltransferase (disorder)

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

204128017 Deficiency of phosphorylethanolamine transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204129013 Deficiency of ethanolamine-phosphate cytidylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728023017 Deficiency of ethanolamine-phosphate cytidylyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6851171000146110 deficiëntie van ethanolamine-fosfaatcytidylyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11273981000146119 deficiëntie van fosforylethanolaminetransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11274041000146112 deficiëntie van ethanolaminefosfaatcytidylyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11274051000146110 deficiëntie van ethanolaminefosfaatcytidylyltransferase (aandoening) nl Fully specified name 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 ethanolamine-phosphate cytidylyltransferase (disorder)	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of ethanolamine-phosphate cytidylyltransferase (disorder)	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