Acute Intermittent Porphyria

Preferred Label : Acute Intermittent Porphyria;

NCIt synonyms : Porphyria, Acute Intermittent;

NCIt definition : A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain.;

Details

Origin ID

C84536;

UMLS CUI

C0162565;

Automatic exact mappings (from CISMeF team)
- Homozygous acute intermittent porphyria [ICD-11 More detail]
Currated CISMeF NLP mapping
- Acute intermittent porphyria [PASCAL descriptor]
- Acute intermittent porphyria [ICD-11 More detail]
- Acute intermittent porphyria [ORDO Disease]
- Acute intermittent porphyria [MedDRA LLT]
- Acute intermittent porphyria (disorder) [SNOMED CT concept]
- Porphobilinogen deaminase deficiency (disorder) [SNOMED CT concept]
- Porphyria, acute intermittent [OMIM Phenotype]
- acute intermittent porphyria [DO Concept]
- acute intermittent porphyria [Disease (Nov.)]
- acute intermittent porphyria [SNOMED Notion]
- hydroxymethylbilane synthase deficiency [MeSH concept]
- porphobilinogen deaminase deficiency [Disease (Nov.)]
- porphyria, acute intermittent [MeSH Descriptor]
- porphyria, acute intermittent [MeSH concept]
DO Cross reference
- acute intermittent porphyria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acute intermittent porphyria [ORDO Disease]
- Acute intermittent porphyria [MedDRA LLT]
- Acute intermittent porphyria (disorder) [SNOMED CT concept]
- Acute porphyrias [Vue CIM-11]
- Porphyria acute [MedDRA Preferred Term]
- Porphyria, acute intermittent [OMIM Phenotype]
- acute intermittent porphyria [DO Concept]
- acute intermittent porphyria [Disease (Nov.)]
- acute intermittent porphyria [SNOMED Notion]
- porphyria, acute intermittent [MeSH concept]
- porphyria, acute intermittent [MeSH Descriptor]
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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