58256000: Dihydropteridine reductase deficiency (disorder)

SNOMED CT Concept\Clinical 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

\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

\Congenital disease\Inborn error of metabolism\Dihydropteridine reductase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

96809014 Dihydropteridine reductase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

96810016 Atypical phenylketonuria en Synonym Active Entire term case insensitive SNOMED CT core module

96811017 DHPR deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

96812012 Hyperphenylalaninemia, type IV en Synonym Active Only initial character case insensitive SNOMED CT core module

96813019 Atypical PKU en Synonym Active Only initial character case insensitive SNOMED CT core module

96814013 Phenylketonuria II en Synonym Active Only initial character case insensitive SNOMED CT core module

498119014 DHPR - Dihydropteridine reductase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

498120015 Hyperphenylalaninaemia, type IV en Synonym Active Only initial character case insensitive SNOMED CT core module

796968013 Dihydropteridine reductase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets