Nonclassical phenylketonuria

ICD-11 code : 5C50.01;

Preferred Label : Nonclassical phenylketonuria;

ICD-11 definition : Mild phenylketonuria is a rare form of phenylketouria (PKU, ), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.;

ICD-11 synonym : Atypical PKU; Atypical PKU - [phenylketonuria]; Atypical phenylketonuria; phenylketonuria;

Details

Origin ID

2132400826;

UMLS CUI

C0268465;

Automatic exact mappings (from CISMeF team)
- Phenylketonuria [ORDO Disease]
- Phenylketonuria [NCIt concept]
- phenylketonuria [EMDN type]
Currated CISMeF NLP mapping
- Dihydropteridine reductase deficiency [ORDO Disease]
- Dihydropteridine reductase deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia, BH4-deficient C [NCIt concept]
- Hyperphenylalaninemia, bh4-deficient, C [OMIM Phenotype]
- Mild phenylketonuria [ORDO Disease]
- dihydropteridine reductase deficiency [SNOMED Notion]
- phenylketonuria II [MeSH concept]
- quinoid dihydropteridine reductase deficiency [Disease (Nov.)]
ICD-10 Mapping
- Other hyperphenylalaninemias [ICD-10 Sub-category]
See also inter- (CISMeF)
- Other hyperphenylalaninemias [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dihydropteridine reductase deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia, BH4-deficient C [NCIt concept]
- Hyperphenylalaninemia, bh4-deficient, C [OMIM Phenotype]
- Mild phenylketonuria [ORDO Disease]
- dihydropteridine reductase deficiency [SNOMED Notion]
- phenylketonuria II [MeSH concept]
- quinoid dihydropteridine reductase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- phenylketonurias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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