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syndroom van craniosynostose en dentale anomalie├źn (aandoening)
syndroom van craniosynostose en dentale anomalie├źn
syndroom van Kreiborg-Pakistani
Craniosynostosis and dental anomalies syndrome
Kreiborg Pakistani syndrome
A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13.
Id773332008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
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