| syndroom van dyssomnie en verstandelijke beperking gerelateerd aan ankyrine 3-genmutatie (aandoening) | | syndroom van dyssomnie en verstandelijke beperking gerelateerd aan ankyrine 3-genmutatie | | syndroom van slaapstoornis en verstandelijke handicap gerelateerd aan ankyrine 3-genmutatie
syndroom van dyssomnie en mentale retardatie gerelateerd aan ANK3-genmutatie
| | ANK3-related intellectual disability, sleep disturbance syndrome | | Ankyrin 3 related intellectual disability, sleep disturbance syndrome
| | A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. |
| | Id | 787175002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G93.8 | | Term | Overige gespecificeerde hersenaandoeningen |
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| SNOMED CT to Orphanet simple map | 356996 |
| SNOMED CT to ICD-10 extended map | | Target | G93.8 | | Rule | TRUE | | Advice | ALWAYS G93.8 | 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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