Acute Hepatic Porphyria

Preferred Label : Acute Hepatic Porphyria;

NCIt synonyms : Delta-Aminolevulinate Dehydratase Deficiency; Porphobilinogen Synthase Deficiency; ALAD Deficiency;

NCIt definition : A family of rare genetic disorders characterized by episodes of severe, potentially life-threatening abdominal pain and neuropsychiatric symptoms due to abnormal heme production in the liver.;

Details

Origin ID

C133887;

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
- Acute hepatic porphyria [ORDO Disease]
- Porphyria, acute hepatic [OMIM Phenotype]
- porphyria, acute hepatic [MeSH concept]
- porphyria, acute hepatic [MeSH Supplementary 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 [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]
- porphyria, acute hepatic [MeSH Supplementary Concept]
- porphyria, acute hepatic [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ALAD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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