| syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte (aandoening) | | syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte | | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome | | A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions. |
| | Id | 782886007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 263410 |
| SNOMED CT to ICD-10 extended map | | Target | E79.8 | | Rule | TRUE | | Advice | ALWAYS E79.8 | 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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