Autosomal dominant hereditary disorder
Deafness with onychodystrophy syndrome
Multiple system malformation syndrome
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Autosomal dominant deafness with onychodystrophy syndrome (disorder)
Autosomal dominant deafness with onychodystrophy syndrome
Autosomal dominant hearing loss, onychodystrophy syndrome
DDOD (dominant deafness onychodystrophy) syndrome
A rare multiple congenital anomalies syndrome with characteristics of congenital hearing impairment, small or absent nails on the hands and feet and small or absent terminal phalanges. Caused, in some cases by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation. Inheritance is autosomal dominant.
Id1208614008
StatusPrimitive
Has interpretationDecreased
InterpretsHearing
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteNail unit structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteStructure of auditory system
OccurrenceCongenital
Associated morphologyMorphologically abnormal structure
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
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