hyperphenylalaninaemia

Preferred Label : hyperphenylalaninaemia;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0335856;

UMLS CUI

C0751435;

Automatic exact mappings (from CISMeF team)
- Hyperphenylalaninaemia [MedDRA Preferred Term]
- Hyperphenylalaninemia [MedDRA LLT]
- Other hyperphenylalaninaemias [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Hyperphenylalaninemia [PASCAL descriptor]
- Hyperphenylalaninemia [HPO term]
- Hyperphenylalaninemia (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
- hyperphenylalaninemia [Disease (Nov.)]
- hyperphenylalaninemia, nos [SNOMED Notion]
Related record
- phenylketonurias [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphenylalaninaemia [MedDRA Preferred Term]
- Hyperphenylalaninemia [HPO term]
- Hyperphenylalaninemia [MedDRA LLT]
- Hyperphenylalaninemia (disorder) [SNOMED CT concept]
- hyperphenylalaninemia [Disease (Nov.)]
- hyperphenylalaninemia, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Mild hyperphenylalaninaemia [ICD-11 More detail]