Hyperferritinemia, hereditary, with congenital cataracts

Preferred Label : Hyperferritinemia, hereditary, with congenital cataracts;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0532598;

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]
Related record
- hyperferritinemia, hereditary, with congenital cataracts [MeSH Supplementary 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]