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Homozygous hereditary coproporphyria

disorder
SNOMED 238056003CUI C0342859

Overview

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

Signs & Symptoms

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

Increased fecal harderoporphyrin
Always present (100%)HP:0034472
Increased urine harderoporphyrin level
Always present (100%)HP:0033627
Cutaneous photosensitivity
HP:0000992
Enlarged liver
HP:0002240
Hemolytic anaemia
HP:0001878
Hyperbilirubinemia, neonatal
HP:0003265
Increased serum ferritin level
HP:0003281
Increased urinary porphobilinogen
HP:0012217
Large spleen
HP:0001744
Patchy darkened skin
HP:0000953
Prolonged neonatal jaundice
HP:0006579
Red urine
HP:0040318
Reticulocytosis
HP:0001923
Vomiting
HP:0002013

Quick Facts

SNOMED CT
238056003
UMLS CUI
C0342859
Fully Specified Name
Homozygous hereditary coproporphyria (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
14
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.