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Intellectual disability, short stature, hypertelorism syndrome (disorder)
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.
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
Id771077007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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