Acute intermittent porphyria

Preferred Label : Acute intermittent porphyria;

ICD-11 definition : Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.;

ICD-11 synonym : AIP - [acute intermittent porphyria]; Hydroxymethylbilane synthase deficiency; PBGD deficiency; PBGD - [Porphobilinogen deaminase] deficiency; Swedish porphyria; Porphobilinogen deaminase deficiency; Waldenström porphyria;

ICD-11 acronym : AIP;

CISMeF acronym : AIP;

Détails

Origin ID

1565229118;

Automatic exact mappings (from CISMeF team)
- Aryl hydrocarbon receptor-interacting protein [OMIM gene]
- Aurora kinase a-interacting protein 1 [OMIM gene]
- Autoimmune Pancreatitis [MeSH Descriptor]
- Invasive blood pressure (observable entity) [SNOMED CT concept]
- Porphobilinogen deaminase [LOINC component]
- aryl hydrocarbon receptor interacting protein [ORDO Gene]
- plasminogen inactivators [MeSH Descriptor]
Currated CISMeF NLP mapping
- Acute Intermittent Porphyria [NCIt concept]
- Acute intermittent porphyria [MedDRA LLT]
- Acute intermittent porphyria [ORDO Disease]
- Acute intermittent porphyria [PASCAL descriptor]
- Acute intermittent porphyria (disorder) [SNOMED CT concept]
- Porphobilinogen deaminase deficiency (disorder) [SNOMED CT concept]
- Porphyria, acute intermittent [OMIM Phenotype]
- acute intermittent porphyria [SNOMED Notion]
- acute intermittent porphyria [DO Concept]
- acute intermittent porphyria [Disease (Nov.)]
- hydroxymethylbilane synthase deficiency [MeSH concept]
- porphyria, acute intermittent [MeSH concept]
- porphyria, acute intermittent [MeSH Descriptor]
False automatic mappings
- AH Receptor-Interacting Protein [NCIt concept]
- Acute Interstitial Pneumonia [NCIt concept]
- Acute idiopathic pulmonary fibrosis (disorder) [SNOMED CT concept]
- Atherogenic Index of Plasma [NCIt concept]
- Autoimmune pancreatitis [ORDO Disease]
- acute interstitial pneumonia [DO Concept]
- pelvic inflammatory disease [MeSH Descriptor]
See also inter- (CISMeF)
- AIP Gene [NCIt concept]
- porphobilinogen deaminase deficiency [Disease (Nov.)]

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