Athetoid cerebral palsy
Brachycephaly
Congenital abnormality of skull shape
Congenital deformity
Congenital musculoskeletal deformity
Congenital neurological disorder
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
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Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder)
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
syndroom van ernstige microbrachycefalie, verstandelijke beperking en athetoïde cerebrale verlamming
syndroom van ernstige microbrachycefalie, mentale retardatie en athetoïde cerebrale parese
syndroom van ernstige microbrachycefalie, verstandelijke handicap en athetoïde cerebrale paralyse
Id783005002
StatusPrimitive
Associated morphologyDeformity
Finding siteBone structure of cranium
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteCerebrum
Clinical courseNon-progressive
Finding siteExtrapyramidal system structure
InterpretsMovement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified