Description
obsolete_porphyria: ['A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.']
Data source
| FinnGen phenocode |
E4_PORPHYNAS |
| Hospital Discharge registry |
ICD-8: 2731 |
| Hospital Discharge registry: exclude ICD-9 |
2771B |
| Hospital Discharge registry: exclude ICD-8 |
27310 |
| Cause of Death registry |
ICD-8: 2731 |
| Level in the ICD-hierarchy |
4 |
| First defined in version |
DF2 |
Ontology