porphyria, variegate

Preferred Label : porphyria, variegate;

MeSH definition : An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh 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, COPROPORPHYRINS and protoporphyrinogen.;

MeSH synonym : protoporphyrinogen oxidase deficiency; variegate porphyria; porphyria variegata; porphyria variegate; ppox deficiency; Porphyria, South African Type; Deficiency, Ppox; Ppox Deficiencies;

CISMeF synonym : deficiencies, protoporphyrinogen oxidase; porphyria variegates; variegate, porphyria; variegates, porphyria;

Details

Origin ID

D046350;

UMLS CUI

C0162532;

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]
Currated CISMeF NLP mapping
- Porphyria variegata [ORDO Disease]
- Variegate Porphyria [NCIt concept]
- Variegate porphyria [ICD-11 Sub-sub category]
- Variegate porphyria [OMIM Phenotype]
- Variegate porphyria [MedDRA LLT]
- Variegate porphyria (disorder) [SNOMED CT concept]
- variegate porphyria [DO Concept]
- variegate porphyria [Disease (Nov.)]
- variegate porphyria [SNOMED Notion]
DO Cross reference
- variegate porphyria [DO Concept]
Manual NTBT mappings (CISMeF)
- Acute hepatic porphyria [ORDO Disease]
MeSH Descriptor(s) used for indexing
- protoporphyrinogen oxidase [MeSH Descriptor]
Record concept(s)
- porphyria, variegate [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Porphyria variegata [ORDO Disease]
- Variegate Porphyria [NCIt concept]
- Variegate porphyria [MedDRA LLT]
- Variegate porphyria [OMIM Phenotype]
- Variegate porphyria [ICD-11 Sub-sub category]
- Variegate porphyria (disorder) [SNOMED CT concept]
- variegate porphyria [DO Concept]
- variegate porphyria [Disease (Nov.)]
- variegate porphyria [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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