Hereditary coproporphyria

Preferred Label : Hereditary coproporphyria;

ICD-11 definition : Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.;

ICD-11 synonym : Coproporphyrinogen oxidase deficiency;

Details

Origin ID

1365918274;

UMLS CUI

C0162531;

Currated CISMeF NLP mapping
- Coproporphyria, hereditary [OMIM Phenotype]
- Hereditary Coproporphyria [NCIt concept]
- Hereditary coproporphyria [ORDO Disease]
- Hereditary coproporphyria [MedDRA LLT]
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- coproporphyria, hereditary [MeSH concept]
- coproporphyria, hereditary [MeSH Descriptor]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [SNOMED Notion]
- hereditary coproporphyria [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coproporphyria, hereditary [OMIM Phenotype]
- Hereditary Coproporphyria [NCIt concept]
- Hereditary coproporphyria [MedDRA LLT]
- Hereditary coproporphyria [ORDO Disease]
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- coproporphyria, hereditary [MeSH Descriptor]
- coproporphyria, hereditary [MeSH concept]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [Disease (Nov.)]
- hereditary coproporphyria [SNOMED Notion]
Validated automatic mappings to NTBT
- Other porphyria [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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