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syndroom van epifysaire dysplasie, microcefalie en nystagmus (aandoening)
syndroom van epifysaire dysplasie, microcefalie en nystagmus
syndroom van Lowry-Wood
Epiphyseal dysplasia, microcephalus, nystagmus syndrome
Lowry Wood syndrome
Syndrome with the association of epiphyseal dysplasia, short stature, microcephaly and in the first reported cases congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
Id721975004
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified