Classical Phenylketonuria

Preferred Label : Classical Phenylketonuria;

NCIt synonyms : Phenylalanine Hydroxylase Deficiency;

NCIt related terms : CPKU;

NCIt definition : A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.;

Details

Origin ID

C117117;

UMLS CUI

C0751434;

Automatic exact mappings (from CISMeF team)
- Reduced phenylalanine hydroxylase level [HPO term]
- classical phenylketonuria [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Classical phenylketonuria [ICD-10 Sub-category]
- Classical phenylketonuria [ICD-11 Sub-sub category]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [OMIM Phenotype]
- Phenylketonuria [ORDO Disease]
- classical phenylketonuria [SNOMED Notion]
- phenylketonuria I [MeSH concept]
- phenylketonurias [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic phenylketonuria [ORDO Disease]
- Classical phenylketonuria [ICD-10 Sub-category]
- Classical phenylketonuria [ICD-11 Sub-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
- Classic phenylketonuria [ORDO Disease]
- PHENYLKETONURIA [WHO-ART Preferred Term]
- PKU [MedDRA LLT]
- Phenylketonuria [ICD-11 Subcategory]
- Phenylketonuria [OMIM Phenotype]
- Phenylketonuria [ORDO Disease]
- Phenylketonuria [MedDRA Preferred Term]
- Phenylketonuria [PASCAL descriptor]
- Phenylketonuria [ACR pathology]
- Phenylketonuria (PKU) [MedDRA LLT]
- Phenylketonuria [PKU] [ICD-9 code]
- phenylketonuria [MedlinePlus Topic]
- phenylketonuria [DO Concept]
- phenylketonurias [MeSH Descriptor]
- phenylketonurias [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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