Developmental hereditary disorder
Intellectual disability
X-linked recessive hereditary disease
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X-linked intellectual disability Schimke type (disorder)
X-linked intellectual disability Schimke type
X-linked mental retardation Schimke type has characteristics of intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.
X-gebonden verstandelijke beperking Schimke-type
X-gebonden mentale retardatie Schimke-type
X-gebonden verstandelijke handicap Schimke-type
Id719010001
StatusPrimitive
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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