Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction

Preferred Label : Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Herrmann syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 172500;

Details

Origin ID

172500;

UMLS CUI

C1809475;

Currated CISMeF NLP mapping
- Herrmann syndrome [MeSH concept]
- Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction (disorder) [SNOMED CT concept]
- Symphalangism-brachydactyly syndrome (disorder) [Inactive SNOMED CT concept]
- herrmann syndrome [MeSH Supplementary Concept]
HPO term(s)
- Astrocytosis [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Cochlear degeneration [HPO term]
- Confusion [HPO term]
- Depression [HPO term]
- Diabetes mellitus [HPO term]
- Focal motor seizure [HPO term]
- Horizontal nystagmus [HPO term]
- Nephropathy [HPO term]
- Personality changes [HPO term]
- Photosensitive myoclonic seizure [HPO term]
- Progressive cochlear degeneration [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Slowed slurred speech [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Herrmann syndrome [MeSH concept]
- Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction (disorder) [SNOMED CT concept]
- herrmann syndrome [MeSH Supplementary Concept]

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