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Chudley-McCullough-syndroom (aandoening)
Chudley-McCullough-syndroom
syndroom van Chudley-McCullough
Chudley McCullough syndrome
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.
Id773610007
StatusPrimitive
Finding sitestructuur van oor
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.8
TermOverige gespecificeerde congenitale misvormingen van hersenen
TargetH90.3
TermGehoorverlies door perceptiestoornis, dubbelzijdig
SNOMED CT to Orphanet simple map314597
SNOMED CT to ICD-10 extended map
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.3
RuleTRUE
AdviceALWAYS H90.3
CorrelationSNOMED CT source code to target map code correlation not specified