Homozygous acute intermittent porphyria

Preferred Label : Homozygous acute intermittent porphyria;

ICD-11 definition : The clinical pictures of a case of homozygous acute intermittent porphyria were characterized by porencephaly and severe retardation in development.;

ICD-11 synonym : Homozygous AIP - [acute intermittent porphyria]; Homozygous hydroxymethylbilane synthase deficiency; Homozygous AIP; Homozygous porphobilinogen deaminase deficiency; acute intermittent porphyria;

Details

Origin ID

1977383835;

UMLS CUI

C0342858;

Automatic exact mappings (from CISMeF team)
- Acute Intermittent Porphyria [NCIt concept]
- Acute intermittent porphyria (disorder) [SNOMED CT concept]
- porphyria, acute intermittent [MeSH Descriptor]
Currated CISMeF NLP mapping
- Homozygous acute intermittent porphyria (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Homozygous acute intermittent porphyria (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Acute intermittent porphyria [ORDO Disease]

Keyword's position in hierarchy(ies) :

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