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Wolfram-achtig syndroom (aandoening)
Wolfram-achtig syndroom
Wolfram-like syndrome
A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16.
Id734022008
StatusPrimitive
Interpretsgehoorfunctie
Finding sitestructuur van auris
Occurrencecongenitaal
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE13.8
RuleTRUE
AdviceALWAYS E13.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified