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Deafness, nephritis, anorectal malformation syndrome (disorder)
Lowe Kohn Cohen syndrome
Deafness, nephritis, anorectal malformation syndrome
An extremely rare anorectal malformation syndrome with characteristics of imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
syndroom van doofheid, nefritis en anorectale malformatie
syndroom van Lowe-Kohn-Cohen
Lowe-Kohn-Cohen-syndroom
Id766249007
StatusPrimitive
Finding siteEar structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital atresia
Finding siteAnal structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsHearing
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified