Variegate Porphyria

Preferred Label : Variegate Porphyria;

NCIt definition : An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. Patients may experience skin sensitivity to sunlight.;

Details

Origin ID

C85219;

UMLS CUI

C0162532;

DO Cross reference
- variegate porphyria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Porphyria variegata [ORDO Disease]
- Variegate porphyria [MedDRA LLT]
- Variegate porphyria [OMIM Phenotype]
- Variegate porphyria [ICD-11 Sub-sub category]
- Variegate porphyria (disorder) [SNOMED CT concept]
- porphyria, variegate [MeSH Descriptor]
- porphyria, variegate [MeSH concept]
- variegate porphyria [DO Concept]
- variegate porphyria [Disease (Nov.)]
- variegate porphyria [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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