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syndroom van verstandelijke beperking, kleine gestalte en hypertelorisme (aandoening)
syndroom van verstandelijke beperking, kleine gestalte en hypertelorisme
syndroom van Stoll-Géraudel-Chauvin
syndroom van verstandelijke handicap, kleine lengte en hypertelorisme
Stoll-Géraudel-Chauvin-syndroom
Intellectual disability, short stature, hypertelorism syndrome
Stoll Geraudel Chauvin syndrome
A rare genetic syndromic intellectual disability affecting males with characteristics of short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.
Id771077007
StatusPrimitive
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