Hereditary Coproporphyria

Preferred Label : Hereditary Coproporphyria;

NCIt definition : An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations.;

Details

Origin ID

C84759;

UMLS CUI

C0162531;

Currated CISMeF NLP mapping
- Coproporphyria, hereditary [OMIM Phenotype]
- Hereditary coproporphyria [ICD-11 More detail]
- Hereditary coproporphyria [ORDO Disease]
- Hereditary coproporphyria [MedDRA LLT]
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- Other and unspecified porphyria [ICD-10 Sub-category]
- Other porphyria [ICD-10 Sub-category (who)]
- coproporphyria, hereditary [MeSH Descriptor]
- coproporphyria, hereditary [MeSH concept]
- hereditary coproporphyria [Disease (Nov.)]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [SNOMED Notion]
DO Cross reference
- hereditary coproporphyria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coproporphyria, hereditary [OMIM Phenotype]
- Hereditary coproporphyria [ORDO Disease]
- Hereditary coproporphyria [ICD-11 More detail]
- Hereditary coproporphyria [MedDRA LLT]
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- Other porphyria [ICD-10 Sub-category (who)]
- coproporphyria, hereditary [MeSH Descriptor]
- coproporphyria, hereditary [MeSH concept]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [Disease (Nov.)]
- hereditary coproporphyria [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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