hyperferritinemia, hereditary, with congenital cataracts

Preferred Label : hyperferritinemia, hereditary, with congenital cataracts;

MeSH synonym : hereditary hyperferritinemia-cataract syndrome; hyperferritinemia cataract syndrome; dominant hyperferritinemia and cataract; Hyperferritinemia-Cataract syndrome; hereditary hyperferritinemia with congenital cataracts; Bonneau-Beaumont syndrome;

Details

Origin ID

C538137;

UMLS CUI

C1833213;

Currated CISMeF NLP mapping
- Hereditary hyperferritinemia-cataract syndrome [ORDO Disease]
- Hyperferritinemia cataract syndrome (disorder) [SNOMED CT concept]
- Hyperferritinemia with or without cataract [OMIM Phenotype]
- hyperferritinemia-cataract syndrome [DO Concept]
DO Cross reference
- hyperferritinemia-cataract syndrome [DO Concept]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- iron metabolism disorders [MeSH Descriptor]
ORDO relation(s)
- Hereditary hyperferritinemia-cataract syndrome [ORDO Disease]
Record concept(s)
- Hyperferritinemia, hereditary, with congenital cataracts [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary hyperferritinemia-cataract syndrome [ORDO Disease]
- Hyperferritinemia cataract syndrome (disorder) [SNOMED CT concept]
- Hyperferritinemia with or without cataract [OMIM Phenotype]
- hyperferritinemia-cataract syndrome [DO Concept]

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