coproporphyria, hereditary

Preferred Label : coproporphyria, hereditary;

MeSH definition : An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.;

MeSH synonym : coproporphyrinogen oxidase deficiency; deficiency, coproporphyrinogen oxidase; hereditary coproporphyria;

Wikipedia link : https://en.wikipedia.org/wiki/Coproporphyria, hereditary;

Détails

Origin ID

D046349;

UMLS CUI

C0162531;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Homozygous hereditary coproporphyria [ICD-11 More detail]
Currated CISMeF NLP mapping
- Coproporphyria, hereditary [OMIM Phenotype]
- Hereditary Coproporphyria [NCIt concept]
- 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)]
- hereditary coproporphyria [Disease (Nov.)]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [SNOMED Notion]
DO Cross reference
- hereditary coproporphyria [DO Concept]
Manual NTBT mappings (CISMeF)
- Acute hepatic porphyria [ORDO Disease]
MeSH Descriptor(s) used for indexing
- coproporphyrinogen oxidase [MeSH Descriptor]
ORDO relation(s)
- Hereditary coproporphyria [ORDO Disease]
Record concept(s)
- coproporphyria, hereditary [MeSH concept]
Related MeSH Supplementary Concept(s)
- coproporphyria [MeSH Supplementary Concept]
- harderoporphyria [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coproporphyria, hereditary [OMIM Phenotype]
- Hereditary Coproporphyria [NCIt concept]
- 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)]
- hereditary coproporphyria [SNOMED Notion]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [Disease (Nov.)]

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