| 'cadherin EGF LAG seven-pass G-type receptor 1'-gerelateerd laat optredend primair lymfoedeem (aandoening) | | 'cadherin EGF LAG seven-pass G-type receptor 1'-gerelateerd laat optredend primair lymfoedeem | | CELSR1-gerelateerd laat optredend primair lymfoedeem
| | CELSR1-related late-onset primary lymphedema | | Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema
| | A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. |
| | Id | 1222668001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.0 | | Term | Hereditair lymfoedeem |
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| SNOMED CT to Orphanet simple map | 569816 |
| SNOMED CT to ICD-10 extended map | | Target | I89.0 | | Rule | TRUE | | Advice | ALWAYS I89.0 | 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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