| syndroom van kleine gestalte, atresie van uitwendige gehoorgang, hypoplasie van mandibula en skeletafwijkingen (aandoening) | | syndroom van kleine gestalte, atresie van uitwendige gehoorgang, hypoplasie van mandibula en skeletafwijkingen | | syndroom van kleine gestalte, gehoorgangatresie, hypoplasie van mandibula en skeletafwijkingen
SAMS-syndroom
| | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | | SAMS syndrome
SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
| | Id | 774155009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.1 | | Term | Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte |
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| SNOMED CT to Orphanet simple map | 397623 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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