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
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| Id | 782823001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | I78.1 | Rule | TRUE | Advice | ALWAYS I78.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Z80.9 | Rule | TRUE | Advice | ALWAYS Z80.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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