syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie (aandoening) | | syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie | | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome | | 15q26.3 microdeletion syndrome
| | A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. |
| Id | 783551005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q93.5 | Term | Overige deleties van deel van chromosoom |
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SNOMED CT to Orphanet simple map | 363992 |
SNOMED CT to ICD-10 extended map | Target | Q93.5 | Rule | TRUE | Advice | ALWAYS Q93.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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