Brown-Vialetto-Van laere syndrome

Preferred Label : Brown-Vialetto-Van laere syndrome;

MeSH synonym : pontobulbar palsy and neurosensory deafness; pontobulbar palsy with deafness; bulbar palsy, progressive, with sensorineural deafness; progressive bulbar palsy with sensorineural deafness;

Details

Origin ID

C537111;

UMLS CUI

C0796274;

Automatic exact mappings (from CISMeF team)
- Brown-Vialetto-Van Laere syndrome [MedDRA Preferred Term]
- Brown-Vialetto-van Laere syndrome [ICD-11 More detail]
- Brown-vialetto-van laere syndrome [OMIM phenotypic series]
CISMeF manual mappings
- riboflavin transporter deficiency [Disease (Nov.)]
Currated CISMeF NLP mapping
- Brown-Vialetto-Van Laere Syndrome 1 [NCIt concept]
- Brown-Vialetto-Van Laere syndrome [DO Concept]
- Brown-vialetto-van laere syndrome 1 [OMIM Phenotype]
- Progressive bulbar palsy with sensorineural deafness (disorder) [SNOMED CT concept]
- Riboflavin transporter deficiency [ORDO Disease]
DO Cross reference
- Brown-Vialetto-Van Laere syndrome [DO Concept]
MeSH term(s) associated for indexing
- bulbar palsy, progressive [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
ORDO relation(s)
- Riboflavin transporter deficiency [ORDO Disease]
Record concept(s)
- Brown-Vialetto-Van Laere syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brown-Vialetto-Van Laere Syndrome 1 [NCIt concept]
- Brown-vialetto-van laere syndrome 1 [OMIM Phenotype]
- Riboflavin transporter deficiency [ORDO Disease]

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