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X-gebonden verstandelijke beperking Van Esch-type (aandoening)
X-gebonden verstandelijke beperking Van Esch-type
X-gebonden verstandelijke handicap Van Esch-type
X-gebonden mentale retardatie Van Esch-type
X-linked intellectual disability Van Esch type
X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome.
Id718914002
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