| syndroom van afwezige tibia, polydactylie en arachnoïdale cyste (aandoening) | | syndroom van afwezige tibia, polydactylie en arachnoïdale cyste | | syndroom van Holmes-Collins
| | Absent tibia, polydactyly, arachnoid cyst syndrome | | Holmes Collins syndrome
| | A very rare constellation of multiple anomalies including absence or hypoplasia of the tibia. It has been described in 3 siblings (two males and one female). The syndrome has characteristics of the absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance. |
| | Id | 733068001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q72.5 | | Term | Lengtedefect van tibia |
| Target | Q69.9 | | Term | Polydactylie, niet gespecificeerd |
| Target | Q04.6 | | Term | Congenitale cerebrale cysten |
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| SNOMED CT to Orphanet simple map | 3328 |
| 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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