classical phenylketonuria

Preferred Label : classical phenylketonuria;

Détails

Origin ID

D6-A1120;

UMLS CUI

C0751434;

Automatic exact mappings (from CISMeF team)
- Phenylpyruvic oligophrenia [MedDRA LLT]
- classical phenylketonuria [Artificial nutrition thesaurus concept]
- contraceptives, postcoital [MeSH Descriptor]
Currated CISMeF NLP mapping
- Classic phenylketonuria [ORDO Disease]
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria [ICD-10 Sub-category]
- Classical phenylketonuria [ICD-11 Sub-sub category]
- Classical phenylketonuria [ICD-10 Sub-category (who)]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- PHENYLKETONURIA [WHO-ART Preferred Term]
- PKU [MedDRA LLT]
- Phenylketonuria [PASCAL descriptor]
- Phenylketonuria [NCIt concept]
- Phenylketonuria [ORDO Disease]
- Phenylketonuria [ACR pathology]
- Phenylketonuria [MedDRA Preferred Term]
- Phenylketonuria [OMIM Phenotype]
- Phenylketonuria (PKU) [MedDRA LLT]
- Phenylketonuria [PKU] [ICD-9 code]
- phenylketonuria [DO Concept]
- phenylketonuria [MedlinePlus Topic]
- phenylketonuria I [MeSH concept]
- phenylketonurias [MeSH Descriptor]
- phenylketonurias [MeSH concept]
ICD-10 exact mapping(s)
- Classical phenylketonuria [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Mild hyperphenylalaninemia [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Disorder of amino acid and other organic acid metabolism [ORDO Disease]
- Disorder of phenylalanin or tyrosine metabolism [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- phenylalanine 4-monooxygenase [SNOMED Notion]
SNOMED CT concept
- Classical phenylketonuria (disorder) [SNOMED CT concept]
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 [ICD-11 Sub-sub category]
- Classical phenylketonuria [ICD-10 Sub-category (who)]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [OMIM Phenotype]
- Phenylpyruvic oligophrenia [MedDRA LLT]
- phenylketonuria I [MeSH concept]
Validated automatic mappings to NTBT
- Phenylketonuria [ICD-11 Subcategory]

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