Autosomal recessive hereditary disorder	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
\|	\|	\|	\|	\|

Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome
	A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12.
	syndroom van ernstige verstandelijke beperking, kleine gestalte, gedragsstoornis en faciale dysmorfie
	syndroom van ernstige verstandelijke handicap, kleine gestalte, gedragsstoornis en faciale dysmorfie syndroom van ernstige mentale retardatie, kleine gestalte, gedragsstoornis en faciale dysmorfie

Id	773419004
Status	Primitive

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

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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