| familiair syndroom van cutane teleangiëctasie en predispositie voor maligne orofaryngeaal neoplasma (aandoening) | | familiair syndroom van cutane teleangiëctasie en predispositie voor maligne orofaryngeaal neoplasma | | familiair syndroom van cutane telangiectasia en predispositie voor orofaryngeale maligniteit
| | 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. |
| | Id | 782823001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | I78.1 | | Term | Niet-neoplastische naevus |
| Target | Z80.9 | | Term | Familie-anamnese met maligne neoplasma, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 313846 |
| SNOMED CT to ICD-10 extended map | | 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 |
|
|
