Developmental hereditary disorder
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
X-linked recessive hereditary disease
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X-linked intellectual disability Siderius type (disorder)
X-linked intellectual disability Siderius type
This syndrome is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome.
X-gebonden verstandelijke beperking Siderius-type
X-gebonden mentale retardatie Siderius-type
X-gebonden verstandelijke handicap Siderius-type
Id718908009
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
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