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oculocerebrofaciaal syndroom Kaufman type (aandoening)
oculocerebrofaciaal syndroom Kaufman type
Oculocerebrofacial syndrome Kaufman type
Kaufman oculocerebrofacial syndrome
Syndrome with characteristics of psychomotor retardation, microcephaly, up-slanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. Other anomalies can be present and include long thin hands and feet, ambiguous genitalia, hypertelorism. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the UBE3B gene (608047) on chromosome 12q24.
Id722056009
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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