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Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type
A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion.
Ehlers-Danlos-syndroom van kyfoscoliosetype en doofheid
kyfoscoliose-EDS en gehoorverlies
kyfoscoliosevorm van Ehlers-Danlos-syndroom en gehoorverlies
Id720859009
StatusPrimitive
Has interpretationImpaired
InterpretsHearing
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified