18291000146104: deficiëntie van cholesterolestertransferproteïne (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Cholesteryl ester transfer protein deficiency (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Cholesteryl ester transfer protein deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Cholesteryl ester transfer protein deficiency (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Cholesteryl ester transfer protein deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2017. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

137951000146118 Cholesteryl ester transfer protein deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

137961000146115 Cholesteryl ester transfer protein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8706441000146116 cholesterolestertransferproteïnedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8706451000146118 deficiëntie van cholesterolestertransferproteïne (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8706471000146114 deficiëntie van cholesterolestertransferproteïne 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
Cholesteryl ester transfer protein deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cholesteryl ester transfer protein deficiency (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Cholesteryl ester transfer protein deficiency (disorder)	Is a	Specific enzyme deficiency	true	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