Phenylketonuria

ICD-11 code : 5C50.0;

Preferred Label : Phenylketonuria;

ICD-11 definition : Phenylketonuria is a hereditary metabolic disease, characterized by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.;

ICD-11 synonym : PKU - [phenylketonuria]; Phenylalanine hydroxylase deficiency;

ICD-11 acronym : PKU;

ICD-11 "other" category code : 5C50.0Y;

ICD-11 "unspecified" category code : 5C50.0Z;

Details

Origin ID

444122923;

Automatic exact mappings (from CISMeF team)
- Reduced phenylalanine hydroxylase level [HPO term]
- classical phenylketonuria [Artificial nutrition thesaurus concept]
- contraceptives, postcoital [MeSH Descriptor]
- phenylketonuria [EMDN type]
Currated CISMeF NLP mapping
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- PHENYLKETONURIA [WHO-ART Preferred Term]
- PKU [MedDRA LLT]
- Phenylketonuria [PASCAL descriptor]
- Phenylketonuria [OMIM Phenotype]
- Phenylketonuria [ORDO Disease]
- Phenylketonuria [NCIt concept]
- Phenylketonuria [MedDRA Preferred Term]
- Phenylketonuria [ACR pathology]
- Phenylketonuria (PKU) [MedDRA LLT]
- Phenylketonuria [PKU] [ICD-9 code]
- phenylketonuria [DO Concept]
- phenylketonuria [MedlinePlus Topic]
- phenylketonurias [MeSH Descriptor]
- phenylketonurias [MeSH concept]
ICD-10 Mapping
- Disorders of aromatic amino-acid metabolism [ICD-10 category]
Validated automatic mappings to BTNT
- Classical Phenylketonuria [NCIt concept]
- classical phenylketonuria [SNOMED Notion]
Validated automatic mappings to NTBT
- Disorders of aromatic amino-acid metabolism [ICD-10 category]

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