syndroom van spondylo-epimetafysaire dysplasie en abnormale dentitie (aandoening) | | syndroom van spondylo-epimetafysaire dysplasie en abnormale dentitie | | syndroom van SEMD en abnormale dentitie
| | Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome | | A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. |
| Id | 773302000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 168451 |
SNOMED CT to ICD-10 extended map | Target | Q77.7 | Rule | TRUE | Advice | ALWAYS Q77.7 | 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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