| syndroom van hypercoagulabiliteit door glycosylfosfatidylinositoldeficiëntie (aandoening) | | syndroom van hypercoagulabiliteit door glycosylfosfatidylinositoldeficiëntie | | syndroom van hypercoagulabiliteit door deficiëntie van glycosylfosfatidylinositol
| | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | | A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy. |
| | 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 |
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| SNOMED CT to Orphanet simple map | 83639 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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