Hyperphenylalaninemia, BH4-deficient C

Preferred Label : Hyperphenylalaninemia, BH4-deficient C;

NCIt synonyms : HPABH4C; Dihydropteridine Reductase Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the QDPR gene, encoding dihydropteridine reductase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.;

Details

Origin ID

C138173;

UMLS CUI

C0268465;

Currated CISMeF NLP mapping
- Dihydropteridine reductase deficiency [ORDO Disease]
- Dihydropteridine reductase deficiency [ICD-11 More detail]
- Dihydropteridine reductase deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia, bh4-deficient, C [OMIM Phenotype]
- Nonclassical phenylketonuria [ICD-11 Sub-sub category]
- dihydropteridine reductase deficiency [SNOMED Notion]
- phenylketonuria II [MeSH concept]
- phenylketonurias [MeSH Descriptor]
- quinoid dihydropteridine reductase deficiency [Disease (Nov.)]
See also inter- (CISMeF)
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dihydropteridine reductase deficiency [ICD-11 More detail]
- Dihydropteridine reductase deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia, bh4-deficient, C [OMIM Phenotype]
- Mild phenylketonuria [ORDO Disease]
- Nonclassical phenylketonuria [ICD-11 Sub-sub category]
- dihydropteridine reductase deficiency [SNOMED Notion]
- phenylketonuria II [MeSH concept]
- quinoid dihydropteridine reductase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- QDPR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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