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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 with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23.
familiair syndroom van cutane teleangiƫctasie en predispositie voor maligne orofaryngeaal neoplasma
familiair syndroom van cutane telangiectasia en predispositie voor orofaryngeale maligniteit
Id782823001
StatusPrimitive
Associated morphologyTelangiectasis
Finding siteMicroscopic skin vascular structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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
TargetZ80.9
RuleTRUE
AdviceALWAYS Z80.9
CorrelationSNOMED CT source code to target map code correlation not specified