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hereditaire sensorische en autonome neuropathie met doofheid en algehele ontwikkelingsachterstand (aandoening)
hereditaire sensorische en autonome neuropathie met doofheid en algehele ontwikkelingsachterstand
HSAN met doofheid en algehele ontwikkelingsachterstand
Hereditary sensory and autonomic neuropathy with deafness and global delay
HSAN (hereditary sensory and autonomic neuropathy) with deafness and global delay
This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears to be autosomal recessive.
Id717826009
StatusPrimitive
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.8
TermOverige gespecificeerde hereditaire en idiopathische neuropathie├źn
SNOMED CT to Orphanet simple map139573
SNOMED CT to ICD-10 extended map
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified