deafness nephritis ano rectal malformation

Preferred Label : deafness nephritis ano rectal malformation;

MeSH synonym : dominant ano-rectal malformation, nephritis and nerve-deafness;

Origin ID

C535996;

UMLS CUI

C2931080;

Currated CISMeF NLP mapping
- Deafness, nephritis, anorectal malformation syndrome (disorder) [SNOMED CT concept]
- Lowe-Cohn-Cohen syndrome [ICD-11 More detail]
- Lowe-Kohn-Cohen syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- anal canal [MeSH Descriptor]
- anus, imperforate [MeSH Descriptor]
- hearing loss, central [MeSH Descriptor]
- nephritis, hereditary [MeSH Descriptor]
- rectum [MeSH Descriptor]
Record concept(s)
- Deafness nephritis ano rectal malformation [MeSH concept]
See also (suggested by CISMeF)
- Anorectal Malformations [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lowe-Kohn-Cohen syndrome [ORDO Disease]