Autosomal hereditary disorder
Cardiovascular system hereditary disorder
Glomerular disease
Hereditary disorder of the integument
Hereditary lymphedema
Hereditary nephropathy
Hypotrichosis
Telangiectasia of skin
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Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)
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.
syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect
syndroom van hypotrichose, lymfoedeem, teleangiëctasie en nierdefect
Id723363009
StatusPrimitive
Associated morphologyGrowth alteration
Finding siteHair structure
Associated morphologyTelangiectasis
Finding siteMicroscopic skin vascular structure
Finding siteGlomerulus structure
Associated morphologyLymphatic edema
Finding siteLimb structure
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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