syndroom van wenkbrauwduplicatie en syndactylie (aandoening) | | syndroom van wenkbrauwduplicatie en syndactylie | | Duplication of eyebrow and syndactyly syndrome | | Eyebrow duplication syndactyly syndrome
| | Syndrome with characteristics of partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. |
| Id | 733070005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q18.8 | Term | Overige gespecificeerde congenitale misvormingen van aangezicht en hals |
Target | Q70.1 | Term | Vingers met vliezige verbinding |
Target | Q70.3 | Term | Tenen met vliezige verbinding |
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SNOMED CT to Orphanet simple map | 3172 |
SNOMED CT to ICD-10 extended map | Target | Q18.8 | Rule | TRUE | Advice | ALWAYS Q18.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q70.1 | Rule | TRUE | Advice | ALWAYS Q70.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q70.3 | Rule | TRUE | Advice | ALWAYS Q70.3 | Correlation | SNOMED CT source code to target map code correlation not specified |
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