nephropathy with pretibial epidermolysis bullosa and deafness

Preferred Label : nephropathy with pretibial epidermolysis bullosa and deafness;

Origin ID

C563798;

UMLS CUI

C1836823;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex 7, with nephropathy and deafness [OMIM Phenotype]
- Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) [SNOMED CT concept]
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- epidermolysis bullosa [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- kidney diseases [MeSH Descriptor]
Record concept(s)
- nephropathy with pretibial epidermolysis bullosa and deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex 7, with nephropathy and deafness [OMIM Phenotype]
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome [ORDO Disease]