Developmental hereditary disorder
Intellectual disability
X-linked recessive hereditary disease
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X-linked intellectual disability Shrimpton type (disorder)
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.
X-gebonden verstandelijke beperking Shrimpton-type
X-gebonden verstandelijke handicap Shrimpton-type
X-gebonden mentale retardatie Shrimpton-type
Id718905007
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