'cyclin-dependent kinase-like 5'-syndroom (aandoening) | | 'cyclin-dependent kinase-like 5'-syndroom | | CDKL5-deficiƫntiestoornis infantiele epileptische encefalopathie type 2 CDKL5-epilepsie CDKL5-syndroom CDKL5-gerelateerde epileptische encefalopathie
| | Cyclin-dependent kinase-like 5 deficiency | | CDKL5-related epileptic encephalopathy CDKL5 (cyclin-dependent kinase-like 5) deficiency CDKL5 deficiency disorder
| | A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay. |
| Id | 773230003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G40.4 | Term | Overige vormen van gegeneraliseerde epilepsie en epileptische syndromen |
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SNOMED CT to Orphanet simple map | 505652 |
SNOMED CT to ICD-10 extended map | Target | G40.4 | Rule | TRUE | Advice | ALWAYS G40.4 | 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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