porphyria, acute hepatic

Preferred Label : porphyria, acute hepatic;

MeSH note : mutation in ALAD;

MeSH synonym : porphobilinogen synthase deficiency; doss porphyria; ALAD deficiency; Delta-Aminolevulinate dehydratase deficiency;

Details

Origin ID

C562618;

UMLS CUI

C0268328;

Automatic exact mappings (from CISMeF team)
- Porphobilinogen synthase deficiency (disorder) [SNOMED CT concept]
- porphobilinogen synthase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- ALAD porphyria [ICD-11 More detail]
- Acute Hepatic Porphyria [NCIt concept]
- Acute hepatic porphyria [ORDO Disease]
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
- Porphyria, acute hepatic [OMIM Phenotype]
MeSH term(s) associated for indexing
- porphobilinogen synthase [MeSH Descriptor]
- porphyrias, hepatic [MeSH Descriptor]
Record concept(s)
- porphyria, acute hepatic [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALAD porphyria [ICD-11 More detail]
- ALAD porphyria [MedDRA LLT]
- Acute Hepatic Porphyria [NCIt concept]
- Acute hepatic porphyria [ORDO Disease]
- Acute hepatic porphyria [MedDRA LLT]
- Porphobilinogen synthase deficiency (disorder) [SNOMED CT concept]
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
- Porphyria, acute hepatic [OMIM Phenotype]
- porphobilinogen synthase deficiency [SNOMED Notion]

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