| spasticiteit met hyperglycinemie beginnend op kinderleeftijd (aandoening) | | spasticiteit met hyperglycinemie beginnend op kinderleeftijd | | syndroom van spasticiteit, ataxie en afwijkende gang
| | Childhood-onset spasticity with hyperglycinemia | | Spasticity, ataxia, gait anomalies syndrome
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
| | Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. |
| | Id | 773492007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 401866 |
| SNOMED CT to ICD-10 extended map | | Target | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E72.5 | | Rule | TRUE | | Advice | ALWAYS E72.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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