porphyria, erythropoietic

Preferred Label : porphyria, erythropoietic;

MeSH definition : An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.;

MeSH synonym : porphyria, erythropoietic, congenital; congenital erythropoietic porphyrias; erythropoietic porphyrias, congenital; porphyrias, erythropoietic; porphyria, congenital erythropoietic; gunther's disease; erythropoietic porphyrias; gunther disease; gunthers disease; congenital erythropoietic porphyria; erythropoietic porphyria, congenital; porphyrias, congenital erythropoietic; erythropoietic porphyria;

CISMeF synonym : disease, gunther's; disease, gunther;

Related MeSH term : deficiency of uroporphyrinogen III synthase; UROS Deficiency; Uroporphyrinogen III Synthase, Deficiency of;

MeSH annotation : do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC;

Wikipedia link : https://en.wikipedia.org/wiki/Erythropoietic porphyria, congenital;

Details

Origin ID

D017092;

UMLS CUI

C0162530;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- cutaneous porphyria [DO Concept]
- uroporphyrinogen III synthase [ORDO Gene]
- uroporphyrinogen III synthase [HGNC gene]
CISMeF manual mappings
- Congenital porphyria (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic porphyrias [ICD-11 Sub-sub category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- congenital erythropoietic porphyria [SNOMED Notion]
- erythropoietic porphyria [Disease (Nov.)]
- erythropoietic porphyria, nos [SNOMED Notion]
DO Cross reference
- cutaneous porphyria [DO Concept]
Has phenotype(s) (HPO)
- Pseudoscleroderma [HPO term]
Manual NTBT mappings (CISMeF)
- Rare constitutional hemolytic anemia [ORDO Disease]
MeSH Descriptor(s) used for indexing
- uroporphyrinogen iii synthetase [MeSH Descriptor]
Record concept(s)
- deficiency of uroporphyrinogen III synthase [MeSH concept]
- porphyria, erythropoietic [MeSH concept]
See also
- uroporphyrinogen iii synthetase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria [ICD-11 More detail]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Congenital porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic porphyrias [ICD-11 Sub-sub category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- congenital erythropoietic porphyria [SNOMED Notion]
- cutaneous porphyria [DO Concept]
- erythropoietic porphyria [Disease (Nov.)]
- erythropoietic porphyria, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital erythropoietic porphyria [ICD-11 More detail]

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