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syndroom van choroïderemie met doofheid en obesitas (aandoening)
syndroom van choroïderemie met doofheid en obesitas
syndroom van Ayazi
Xq21-microdeletiesyndroom
monosomie Xq21
choroïderemie-doofheid-obesitas-syndroom
Choroideremia with deafness and obesity syndrome
Xq21 microdeletion syndrome
Ayazi syndrome
An X-linked retinal dystrophy, characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Id717761005
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van choroidea
Associated morphologypartiële monosomie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsgehoorfunctie
Finding sitestructuur van oor
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH31.2
RuleTRUE
AdviceALWAYS H31.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH91.9
RuleTRUE
AdviceALWAYS H91.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE66.9
RuleTRUE
AdviceALWAYS E66.9
CorrelationSNOMED CT source code to target map code correlation not specified