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syndroom van ernstige verstandelijke beperking, kleine gestalte, gedragsstoornis en faciale dysmorfie (aandoening)
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
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.
Id773419004
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