feigenbaum bergeron richardson syndrome

Preferred Label : feigenbaum bergeron richardson syndrome;

MeSH note : Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease; Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder;

Détails

Origin ID

C536178;

UMLS CUI

C2931125;

Currated CISMeF NLP mapping
- Atherosclerosis - deafness - diabetes - epilepsy - nephropathy [ICD-11 More detail]
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) [SNOMED CT concept]
- Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease [OMIM Phenotype]
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- arteriosclerosis [MeSH Descriptor]
- diabetes mellitus [MeSH Descriptor]
- epilepsies, myoclonic [MeSH Descriptor]
- hearing loss, bilateral [MeSH Descriptor]
- myoclonus [MeSH Descriptor]
- nephrotic syndrome [MeSH Descriptor]
- neurodegenerative diseases [MeSH Descriptor]
Record concept(s)
- Feigenbaum Bergeron Richardson syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) [SNOMED CT concept]
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome [ORDO Disease]

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