porphyria, acute intermittent

Preferred Label : porphyria, acute intermittent;

MeSH definition : An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.;

MeSH synonym : acute intermittent porphyrias; porphyrias, acute; acute porphyria; acute intermittent porphyria; intermittent porphyria, acute; intermittent porphyrias, acute; porphyrias, acute intermittent; acute porphyrias; porphyria, acute;

Related MeSH term : hydroxymethylbilane synthase deficiency; Deficiencies, Hydroxymethylbilane Synthase; Deficiency, Hydroxymethylbilane Synthase; Hydroxymethylbilane Synthase Deficiencies; Synthase Deficiencies, Hydroxymethylbilane; Synthase Deficiency, Hydroxymethylbilane; Uroporphyrinogen Synthase Deficiency; Deficiencies, Uroporphyrinogen Synthase; Deficiency, Uroporphyrinogen Synthase; Synthase Deficiencies, Uroporphyrinogen; Synthase Deficiency, Uroporphyrinogen; Uroporphyrinogen Synthase Deficiencies; Porphyria, Swedish Type; Porphyrias, Swedish Type; Swedish Type Porphyria; Swedish Type Porphyrias; Type Porphyria, Swedish; Type Porphyrias, Swedish; UPS Deficiency; Deficiencies, UPS; Deficiency, UPS; UPS Deficiencies; PBGD Deficiency; Deficiencies, PBGD; Deficiency, PBGD; PBGD Deficiencies; Porphobilinogen Deaminase Deficiency; Deaminase Deficiencies, Porphobilinogen; Deaminase Deficiency, Porphobilinogen; Deficiencies, Porphobilinogen Deaminase; Deficiency, Porphobilinogen Deaminase; Porphobilinogen Deaminase Deficiencies;

Wikipedia link : https://en.wikipedia.org/wiki/Acute intermittent porphyria;

Details

Origin ID

D017118;

UMLS CUI

C0162565;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Homozygous acute intermittent porphyria [ICD-11 More detail]
- Invasive blood pressure (observable entity) [SNOMED CT concept]
- Plasminogen Activator Inhibitor 1 [NCIt concept]
- Plasminogen Activator Inhibitor 2 [NCIt concept]
- Porphyria acute [MedDRA Preferred Term]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- SERPINE1 wt Allele [NCIt concept]
- acute porphyria [DO Concept]
Currated CISMeF NLP mapping
- Acute Intermittent Porphyria [NCIt concept]
- 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]
- porphobilinogen deaminase deficiency [Disease (Nov.)]
DO Cross reference
- acute intermittent porphyria [DO Concept]
Has phenotype(s) (HPO)
- Weakness [HPO term]
Manual NTBT mappings (CISMeF)
- Acute hepatic porphyria [ORDO Disease]
- Nuclear oculomotor paralysis [ORDO Disease]
MeSH Descriptor(s) used for indexing
- hydroxymethylbilane synthase [MeSH Descriptor]
ORDO relation(s)
- Acute intermittent porphyria [ORDO Disease]
Record concept(s)
- hydroxymethylbilane synthase deficiency [MeSH concept]
- porphyria, acute intermittent [MeSH concept]
Related MeSH Supplementary Concept(s)
- porphyria, acute intermittent, nonerythroid variant [MeSH Supplementary Concept]
See also
- hydroxymethylbilane synthase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acute Intermittent Porphyria [NCIt 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 [SNOMED Notion]
- acute intermittent porphyria [DO Concept]
- acute intermittent porphyria [Disease (Nov.)]
Validated automatic mappings to NTBT
- Acute porphyrias [Vue CIM-11]

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