Acute intermittent porphyria

disorder

SNOMED 234422006CUI C0162565

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Hemin

substance

Chlorpromazine

substance

Chlorpromazine hydrochloride

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abdominal discomfort

Very frequent (80-99%)HP:0002027

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Elevated urinary delta-aminolevulinic acid

Very frequent (80-99%)HP:0003163

Increased urinary porphobilinogen

Very frequent (80-99%)HP:0012217

Porphyrinuria

Very frequent (80-99%)HP:0010473

Back pain

Frequent (30-79%)HP:0003418

Cranial nerve paralysis

Frequent (30-79%)HP:0006824

Dyschezia

Frequent (30-79%)HP:0002019

Elevated heart rate

Frequent (30-79%)HP:0001649

High blood pressure

Frequent (30-79%)HP:0000822

Intellectual deterioration

Frequent (30-79%)HP:0001268

Limb pain

Frequent (30-79%)HP:0009763

Nausea and vomiting

Frequent (30-79%)HP:0002017

Neck pain

Frequent (30-79%)HP:0030833

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Renal failure in adulthood

Frequent (30-79%)HP:0000083

Abdominal swelling

Occasional (5-29%)HP:0003270

Brain imaging abnormality

Occasional (5-29%)HP:0410263

Confusion

Occasional (5-29%)HP:0001289

Dark urine

Occasional (5-29%)HP:0040319

Depressive episode

Occasional (5-29%)HP:0000716

Diarrhea

Occasional (5-29%)HP:0002014

Distal limb muscle weakness due to peripheral neuropathy

Occasional (5-29%)HP:0002460

Epilepsy

Occasional (5-29%)HP:0001250

Excessive daytime somnolence

Occasional (5-29%)HP:0001262

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Fragmented sleep

Occasional (5-29%)HP:0100785

Hallucinations

Occasional (5-29%)HP:0000738

Hyponatremia

Occasional (5-29%)HP:0002902

Ileus

Occasional (5-29%)HP:0002595

Related Conditions

Homozygous acute intermittent porphyria(child)

Autosomal dominant hereditary disorder(parent)

Porphobilinogen deaminase deficiency(parent)

Porphyria(parent)

Quick Facts

SNOMED CT: 234422006
UMLS CUI: C0162565
Fully Specified Name: Acute intermittent porphyria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 3

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.