nephrosis deafness urinary tract digital malformation

Preferred Label : nephrosis deafness urinary tract digital malformation;

MeSH synonym : nephrosis with deafness and urinary tract and digital malformations;

Details

Origin ID

C536402;

UMLS CUI

C1850552;

Currated CISMeF NLP mapping
- Nephrosis - deafness - urinary tract - digital malformations [ICD-11 More detail]
- Nephrosis with deafness and urinary tract and digital malformations [OMIM Phenotype]
- Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) [SNOMED CT concept]
- Nephrosis-deafness-urinary tract-digital malformations syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Bilateral sensorineural deafness [HPO term]
- Short bifid distal phalanges of thumbs and big toes [HPO term]
MeSH term(s) associated for indexing
- deafness [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- nephrosis [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
ORDO relation(s)
- Nephrosis-deafness-urinary tract-digital malformations syndrome [ORDO Disease]
Record concept(s)
- Nephrosis deafness urinary tract digital malformation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephrosis with deafness and urinary tract and digital malformations [OMIM Phenotype]
- Nephrosis-deafness-urinary tract-digital malformations syndrome [ORDO Disease]

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