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microcefalie-primordiale-dwerggroei type Montreal (aandoening)
microcefalie-primordiale-dwerggroei type Montreal
primordiale dwerggroei met microcefalie type Montreal
'bird-headed' dwerggroei type Montreal
Microcephalic primordial dwarfism Montreal type
Bird-headed dwarfism Montreal type
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.
Id765758008
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified