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X-gebonden verstandelijke beperking Shrimpton-type (aandoening)
X-gebonden verstandelijke beperking Shrimpton-type
X-gebonden verstandelijke handicap Shrimpton-type
X-gebonden mentale retardatie Shrimpton-type
X-linked intellectual disability Shrimpton type
This syndrome is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.
Id718905007
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