Congenital malformation syndrome
Developmental hereditary disorder
Intellectual disability
X-linked recessive hereditary disease
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X-linked intellectual disability Pai type (disorder)
X-linked intellectual disability Pai type
This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome.
X-gebonden verstandelijke beperking Pai-type
X-gebonden verstandelijke handicap Pai-type
X-gebonden mentale retardatie Pai-type
Id719011002
StatusPrimitive
Associated morphologyMorphologically abnormal 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