syndroom van hypoplasie van kraakbeen van neusvleugel, coloboom en telecanthus (aandoening) | | syndroom van hypoplasie van kraakbeen van neusvleugel, coloboom en telecanthus | | Hypoplasia and coloboma of alar cartilage with telecanthus syndrome | | Alar cartilage hypoplasia, coloboma, telecanthus syndrome
| | A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. |
| Id | 722284009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q75.8 | Term | Overige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen |
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SNOMED CT to Orphanet simple map | 2007 |
SNOMED CT to ICD-10 extended map | Target | Q75.8 | Rule | TRUE | Advice | ALWAYS Q75.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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