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syndroom van marfanoïde habitus en autosomaal recessieve verstandelijke beperking (aandoening)
syndroom van marfanoïde habitus en autosomaal recessieve verstandelijke beperking
syndroom van marfanoïde habitus en autosomaal recessieve mentale retardatie
syndroom van marfanoïde habitus en autosomaal recessieve verstandelijke handicap
Marfanoid habitus with autosomal recessive intellectual disability syndrome
Marfanoid habitus, intellectual disability autosomal recessive
A very rare multiple congenital anomalies syndrome described in four siblings and with characteristics of intellectual deficit, flat face and some skeletal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.
Id733062000
StatusPrimitive
Interpretslichaamsbouw
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