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Ehlers-Danlos-syndroom van kyfoscoliosetype en doofheid (aandoening)
Ehlers-Danlos-syndroom van kyfoscoliosetype en doofheid
kyfoscoliosevorm van Ehlers-Danlos-syndroom en gehoorverlies
kyfoscoliose-EDS en gehoorverlies
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.
Id720859009
StatusPrimitive
Has interpretationgestoord
Interpretsgehoorfunctie
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map300179
SNOMED CT to ICD-10 extended map
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified