hemochromatosis

Preferred Label : hemochromatosis;

Definition : A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary. Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron. Acquired hemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease. Idiopathic or genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the hla complex on chromosome 6. (From Dorland, 27th ed) [MeSH];

UMLS CUI (RADLEX) : C0018995;

Details

Origin ID

RID5205;

UMLS CUI

C0018995;

Automatic exact mappings (from CISMeF team)
- Disorders of iron metabolism [ICD-10 Sub-category (who)]
- Hemochromatosis [ACR pathology]
- Hemochromatosis [ACR pathology]
- Hemochromatosis [ACR pathology]
- Hemochromatosis [NCIt concept]
- Hemochromatosis [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Disorders of iron metabolism [ICD-9 code]
- HAEMOCHROMATOSIS [WHO-ART Preferred Term]
- Haemochromatosis [MedDRA Preferred Term]
- Haemochromatosis [ICD-11 More detail]
- Hemochromatosis [MedDRA LLT]
- Hemochromatosis (disorder) [SNOMED CT concept]
- Hemochromatosis (disorder) [Inactive SNOMED CT concept]
- Hemochromatosis, type 1 [OMIM Phenotype]
- Hereditary Hemochromatosis [NCIt concept]
- hemochromatosis [MedlinePlus Topic]
- hemochromatosis [DO Concept]
- hemochromatosis [Disease (Nov.)]
- hemochromatosis [Blood Transfusion thesaurus concept]
- hemochromatosis [MeSH Descriptor]
- hemochromatosis [MeSH concept]
- hemochromatosis, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bronze diabetes (disorder) [SNOMED CT concept]
- Bronzed diabetes [MedDRA LLT]
- HAEMOCHROMATOSIS [WHO-ART Preferred Term]
- Haemochromatosis [MedDRA Preferred Term]
- Hemochromatosis [MedDRA LLT]
- Hemochromatosis [NCIt concept]
- Hemochromatosis (disorder) [SNOMED CT concept]
- Hereditary Hemochromatosis [NCIt concept]
- hemochromatosis [MedlinePlus Topic]
- hemochromatosis [MeSH Descriptor]
- hemochromatosis [MeSH concept]
- hemochromatosis [Disease (Nov.)]
- hemochromatosis [DO Concept]
- hemochromatosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- hereditary hemochromatosis [Disease (Nov.)]

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