276261007: deficiëntie van pterine-4-carbinolaminedehydratase (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect\Pterin-4-carbinolamine dehydratase deficiency

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Pterin-4-carbinolamine dehydratase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Disorder of tetrahydrobiopterin metabolism\Tetrahydrobiopterin synthesis defect\Pterin-4-carbinolamine dehydratase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Pterin-4-carbinolamine dehydratase deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Pterin-4-carbinolamine dehydratase deficiency

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

412328016 Pterin-4-carbinolamine dehydratase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

669155011 Pterin-4-carbinolamine dehydratase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

238831000146117 pterine-4-carbinolaminedehydratasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

238841000146113 deficiëntie van pterine-4-carbinolaminedehydratase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

249191000146117 deficiëntie van pterine-4-carbinolaminedehydratase 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
Pterin-4-carbinolamine dehydratase deficiency	Is a	Tetrahydrobiopterin synthesis defect	true	Inferred relationship	Some
Pterin-4-carbinolamine dehydratase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Pterin-4-carbinolamine dehydratase deficiency	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

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Characteristic

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Group

This concept is not in any reference sets