| 8p11.2-deletiesyndroom (aandoening) | | 8p11.2-deletiesyndroom | | 8p11.2DS
| | 8p11.2 deletion syndrome | | Monosomy 8p11.2
| | 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. |
| | Id | 719646006 | | 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 | 251066 |
| 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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