hemochromatosis, type 2

Preferred Label : hemochromatosis, type 2;

MeSH note : HFE2B (HAMP) is one of genes mutated in Juvenile Hereditary Hemochromatosis;

MeSH synonym : hemochromatosis, juvenile; juvenile hemochromatosis;

Details

Origin ID

C537247;

UMLS CUI

C0268060;

Automatic exact mappings (from CISMeF team)
- Hemochromatosis, type 2a [OMIM Phenotype]
Currated CISMeF NLP mapping
- HJV or HAMP-related hemochromatosis [ORDO Disease]
- Juvenile hemochromatosis (disorder) [SNOMED CT concept]
- hemochromatosis type 2 [DO Concept]
- juvenile hemochromatosis [SNOMED Notion]
DO Cross reference
- hemochromatosis type 2 [DO Concept]
MeSH indexing information
- hepcidins [MeSH Descriptor]
MeSH term(s) associated for indexing
- hemochromatosis [MeSH Descriptor]
ORDO relation(s)
- HJV or HAMP-related hemochromatosis [ORDO Disease]
Record concept(s)
- Hemochromatosis, type 2 [MeSH concept]
- hemochromatosis, type 2A [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HJV or HAMP-related hemochromatosis [ORDO Disease]
- Juvenile hemochromatosis (disorder) [SNOMED CT concept]
- hemochromatosis type 2 [DO Concept]
- juvenile hemochromatosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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