convulsions benign familial neonatal dominant form

Preferred Label : convulsions benign familial neonatal dominant form;

CISMeF synonym : myopathy, spheroid body; autosomal dominant spheroid body myopathy;

MeSH synonym : benign familial neonatal seizures; autosomal dominant form of benign neonatal seizures; epilepsy, benign neonatal, 2; seizures, benign familial neonatal; convulsions, benign familial neonatal, 2;

Details

Origin ID

C535466;

UMLS CUI

C1852581;

Automatic exact mappings (from CISMeF team)
- Benign Familial Convulsion [NCIt concept]
- Myopathy, spheroid body [OMIM Phenotype]
- Seizures, benign familial neonatal [OMIM phenotypic series]
- Seizures, benign familial neonatal, 2 [OMIM Phenotype]
- Spheroid body myopathy [ORDO Disease]
- Spheroid body myopathy (disorder) [SNOMED CT concept]
- benign neonatal seizures [DO Concept]
- spheroid body myopathy [DO Concept]
MeSH term(s) associated for indexing
- epilepsy, benign neonatal [MeSH Descriptor]
ORDO relation(s)
- Benign familial neonatal epilepsy [ORDO Disease]
Record concept(s)
- convulsions benign familial neonatal dominant form [MeSH concept]
See also inter- (CISMeF)
- Spheroid body myopathy [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seizures, benign familial neonatal, 2 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Benign familial neonatal epilepsy [ORDO Disease]

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