| syndroom van ichtyose, orale en digitale anomalieën (aandoening) | | syndroom van ichtyose, orale en digitale anomalieën | | syndroom van Clayton Smith-Donnai
| | Ichthyosis, oral and digital anomalies syndrome | | Clayton-Smith Donnai syndrome
| | Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. |
| | Id | 732950006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q80.9 | | Term | Congenitale ichthyose, niet gespecificeerd |
| Target | Q38.6 | | Term | Overige congenitale misvormingen van mond |
| Target | Q74.0 | | Term | Overige congenitale misvormingen van bovenste extremiteit(en), inclusief schoudergordel |
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| SNOMED CT to Orphanet simple map | 2272 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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