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fatale X-gebonden ataxie met doofheid en blindheid (aandoening)
fatale X-gebonden ataxie met doofheid en blindheid
syndroom van Arts
letale ataxie met doofheid en opticusatrofie
Arts syndrome
Lethal ataxia-deafness-optic atrophy
Fatal X-linked ataxia with deafness and loss of vision
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
Id702441001
StatusPrimitive
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Interpretsgehoorfunctie
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1187
SNOMED CT to ICD-10 extended map
TargetE79.8
RuleTRUE
AdviceALWAYS E79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified