Genetic intellectual disability	Hypertelorism	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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Intellectual disability, short stature, hypertelorism syndrome (disorder)
	Intellectual disability, short stature, hypertelorism syndrome
	Stoll Geraudel Chauvin syndrome
	Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.

Id	771077007
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Sphenoid bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

Has interpretation	Below reference range
Interprets	Body height

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified