konigsmark knox hussels syndrome

Preferred Label : konigsmark knox hussels syndrome;

MeSH synonym : deafness optic atrophy syndrome; dominant congenital deafness and progressive optic nerve atrophy;

Details

Origin ID

C537214;

UMLS CUI

C2931440;

Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy and congenital deafness [ORDO Disease]
- Deafness - optic atrophy syndrome [ICD-11 More detail]
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy [OMIM Phenotype]
MeSH term(s) associated for indexing
- deafness [MeSH Descriptor]
- optic atrophies, hereditary [MeSH Descriptor]
Record concept(s)
- Konigsmark Knox Hussels syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy and congenital deafness [ORDO Disease]

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