58256000: deficiëntie van dihydrobiopteridine-reductase (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Dihydropteridine reductase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect\Dihydropteridine reductase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Dihydropteridine reductase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Dihydropteridine reductase 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\Dihydropteridine reductase 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\Dihydropteridine reductase 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\Dihydropteridine reductase deficiency
\Metabolic disease\Enzymopathy\Dihydropteridine reductase deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Dihydropteridine reductase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dihydropteridine reductase deficiency	Is a	Hyperphenylalaninemia	false	Inferred relationship	Some
Dihydropteridine reductase deficiency	Is a	Disorder of tetrahydrobiopterin metabolism	false	Inferred relationship	Some
Dihydropteridine reductase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Dihydropteridine reductase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Dihydropteridine reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Dihydropteridine reductase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Dihydropteridine reductase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Dihydropteridine reductase deficiency	Is a	Tetrahydrobiopterin synthesis defect	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
96809014	Dihydropteridine reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96810016	Atypical phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96811017	DHPR deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96812012	Hyperphenylalaninemia, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96813019	Atypical PKU	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96814013	Phenylketonuria II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
498119014	DHPR - Dihydropteridine reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498120015	Hyperphenylalaninaemia, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
796968013	Dihydropteridine reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4537351000146116	dihydrobiopteridine-reductasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8643341000146115	deficiëntie van dihydrobiopteridine-reductase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8713401000146112	deficiëntie van dihydrobiopteridine-reductase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)