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syndroom van corneale anesthesie, doofheid en verstandelijke beperking (aandoening)
syndroom van corneale anesthesie, doofheid en verstandelijke beperking
syndroom van corneale anesthesie, doofheid en mentale retardatie
syndroom van corneale anesthesie, doofheid en verstandelijke handicap
syndroom van Ramos Arroyo
Ramos Arroyo syndrome
Corneal anesthesia, deafness, intellectual disability syndrome
An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.
Id723504000
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified