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syndroom van congenitaal cataract, ataxie en doofheid (aandoening)
syndroom van congenitaal cataract, ataxie en doofheid
Congenital cataract with ataxia and deafness syndrome
This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
Id719102004
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ12.0
TermCongenitaal cataract
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map1368
SNOMED CT to ICD-10 extended map
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified