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syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect (aandoening)
syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect
syndroom van hypotrichose, lymfoedeem, teleangiëctasie en nierdefect
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome
An extremely rare syndromic lymphedema disorder characterized by four features which begin in early childhood and are progressive; hypotrichosis, lymphedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13.
Id723363009
StatusPrimitive
Associated morphologyverandering in groei
Finding sitestructuur van pilus
Associated morphologylymfoedeem
Occurrencecongenitaal
Finding sitestructuur van pilus
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ84.0
RuleTRUE
AdviceALWAYS Q84.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.0
RuleTRUE
AdviceALWAYS Q82.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.5
RuleTRUE
AdviceALWAYS Q82.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN07.9
RuleTRUE
AdviceALWAYS N07.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified