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syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke beperking (aandoening)
syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke beperking
syndroom van korte ulna, dysmorfie, hypotonie en mentale retardatie
syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke handicap
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.
Id773556006
StatusPrimitive
Associated morphologyhypoplasie
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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