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syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies (aandoening)
syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies
syndroom van metafysaire dysostose, verstandelijke handicap en geleidingsgehoorverlies
syndroom van metafysaire dysostose, verstandelijke beperking en geleidingsgehoorverlies
syndroom van metafysaire dysostose, mentale retardatie en geleidingsgehoorverlies
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
Id733419006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ78.5
RuleTRUE
AdviceALWAYS Q78.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.2
RuleTRUE
AdviceALWAYS H90.2
CorrelationSNOMED CT source code to target map code correlation not specified