| syndroom van ontwikkelingsachterstand en faciale dysmorfie door deficiëntie van 'mediator complex subunit 13-like' (aandoening) | | syndroom van ontwikkelingsachterstand en congenitale afwijking van aangezicht door MED13L-deficiëntie | | syndroom van ontwikkelingsachterstand en faciale dysmorfie door deficiëntie van 'mediator complex subunit 13-like'
| | Developmental delay, facial dysmorphism syndrome due to MED13L deficiency | | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency
| | A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features. |
| | Id | 787093004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 369891 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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