| syndroom van korte tarsus en afwezigheid van onderste wimpers (aandoening) | | syndroom van korte tarsus en afwezigheid van onderste wimpers | | syndroom van korte voetwortel en afwezige onderste wimpers
syndroom van Lopes-Gorlin
| | Short tarsus with absence of lower eyelashes syndrome | | Lopes Gorlin syndrome
| | A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. |
| | Id | 721075001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 2832 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | 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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