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syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, perceptief gehoorverlies en dysmorfie (aandoening)
syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, perceptief gehoorverlies en dysmorfie
syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, sensorineurale doofheid en dysmorfie
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.
Id773665006
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van auris
Occurrencecongenitaal
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified