Developmental hereditary disorder
Intellectual disability
Multiple system malformation syndrome
X-linked hereditary disease
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X-linked intellectual disability, craniofacioskeletal syndrome (disorder)
X-linked intellectual disability, craniofacioskeletal syndrome
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
X-gebonden verstandelijke beperking en craniofacioskeletaal syndroom
X-gebonden mentale retardatie en craniofacioskeletaal syndroom
X-gebonden verstandelijke handicap en craniofacioskeletaal syndroom
Id773274001
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