297225000: maternale fenylketonurie (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maternal phenylketonuria

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Maternal phenylketonuria

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

437707011 Maternal phenylketonuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

692533018 Maternal phenylketonuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5314321018 PAH-gene related maternal phenylketonuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5314322013 Maternal PKU (phenylketonuria) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6900681000146113 maternale fenylketonurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6900691000146110 maternale fenylketonurie (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
Maternal phenylketonuria	Is a	Disorder of phenylalanine metabolism	true	Inferred relationship	Some
Maternal phenylketonuria	Occurrence	Congenital	false	Inferred relationship	Some
Maternal phenylketonuria	Finding site	Body system structure	false	Inferred relationship	Some
Maternal phenylketonuria	Is a	Autosomal recessive hereditary disorder	true	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