Classical phenylketonuria

ICD-11 code : 5C50.00;

Preferred Label : Classical phenylketonuria;

ICD-11 definition : Classical phenylketonuria is a severe form of phenylketonuria (PKU, ) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.;

ICD-11 synonym : phenylpyruvic aciduria; PAH - [phenylalanine hydroxylase] deficiency; phenylpyruvic oligophrenia; hyperphenylalaninaemia Type I; Typical PKU - [phenylketonuria]; oligophrenia phenylpyruvica; Typical PKU; Typical phenylketonuria; Folling disease; imbecilitus phenylpyruvica; PAH deficiency; phenylketonuria;

Details

Origin ID

2084504393;

UMLS CUI

C0751434;

Automatic exact mappings (from CISMeF team)
- Phenylalanine hydroxylase [LOINC component]
- classical phenylketonuria [Artificial nutrition thesaurus concept]
- phenylalanine hydroxylase [MeSH Descriptor]
- phenylketonuria [EMDN type]
Currated CISMeF NLP mapping
- Classic phenylketonuria [ORDO Disease]
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria [ICD-10 Sub-category]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [NCIt concept]
- classical phenylketonuria [SNOMED Notion]
- phenylketonuria [DO Concept]
- phenylketonuria [MedlinePlus Topic]
- phenylketonuria I [MeSH concept]
ICD-10 Mapping
- Classical phenylketonuria [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic phenylketonuria [ORDO Disease]
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria [ICD-10 Sub-category]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [OMIM Phenotype]
- Phenylpyruvic oligophrenia [MedDRA LLT]
- classical phenylketonuria [SNOMED Notion]
- phenylketonuria I [MeSH concept]
Validated automatic mappings to NTBT
- Phenylketonuria [OMIM Phenotype]
- Phenylketonuria [ORDO Disease]
- phenylketonurias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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