Autosomal hereditary disorder
Cardiovascular system hereditary disorder
Genetic disease of glomerulus
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 early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
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
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ84.0
TermCongenitale alopecia
TargetQ82.0
TermHereditair lymfoedeem
TargetQ82.5
TermCongenitale niet-neoplastische naevus
TargetN07.9
TermHereditaire nefropathie, niet elders geclassificeerd; niet gespecificeerd
SNOMED CT to ICD-10 extended map
TargetQ82.0
RuleTRUE
AdviceALWAYS Q82.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified