| syndroom van hypercoagulabiliteit door glycosylfosfatidylinositoldeficiëntie (aandoening) | | syndroom van hypercoagulabiliteit door glycosylfosfatidylinositoldeficiëntie | | syndroom van hypercoagulabiliteit door deficiëntie van glycosylfosfatidylinositol
| | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | | The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. |
| | Id | 724344004 | | 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 |
|
| SNOMED CT to Orphanet simple map | 83639 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
