| hereditaire gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren (aandoening) | | hereditaire gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren | | erfelijke gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren
erfelijke gecombineerde deficiëntie van factoren II, VII, IX en X en proteïne C, S en Z
| | Hereditary combined deficiency of vitamin K-dependent clotting factors | | Hereditary combined deficiency of factors II, VII, IX and X
| | A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. |
| | Id | 724356003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D68.2 | | Term | Hereditaire deficiëntie van andere stollingsfactoren |
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| SNOMED CT to Orphanet simple map | 98434 |
| SNOMED CT to ICD-10 extended map | | Target | D68.2 | | Rule | TRUE | | Advice | ALWAYS D68.2 | 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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