Autosomal dominant hereditary disorder
Cardiovascular system hereditary disorder
Familial disease
Hereditary cancer-predisposing syndrome
Hereditary disorder of the integument
Telangiectasia of skin
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Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.
Id782823001
StatusPrimitive
Associated morphologyTelangiectasis
Finding siteMicroscopic skin vascular structure
Global Patient Set
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetI78.1
TermNiet-neoplastische naevus
TargetZ80.9
TermFamilie-anamnese met maligne neoplasma, niet gespecificeerd
SNOMED CT to ICD-10 extended map
TargetI78.1
RuleTRUE
AdviceALWAYS I78.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified