| coxopodopatellair syndroom (aandoening) | | coxopodopatellair syndroom | | syndroom van kleine patella
ischiopatellaire dysplasie
syndroom van Scott-Taor
| | Coxopodopatellar syndrome | | Ischiopatellar dysplasia
Small patella syndrome
Scott Taor syndrome
| | A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. |
| | Id | 720752007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q74.1 | | Term | Congenitale misvorming van knie |
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| SNOMED CT to Orphanet simple map | 1509 |
| SNOMED CT to ICD-10 extended map | | Target | Q74.1 | | Rule | TRUE | | Advice | ALWAYS Q74.1 | 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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