AKT serine/threonine kinase-2-gerelateerde familiaire partiële lipodystrofie (aandoening) | | AKT serine/threonine kinase-2-gerelateerde familiaire partiële lipodystrofie | | AKT2-gerelateerde familiale partiële lipodystrofie
| | AKT2-related familial partial lipodystrophy | | AKT serine/threonine kinase 2-related familial partial lipodystrophy
| | A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. |
| Id | 1197746001 | Status | Primitive |
SNOMED CT to Orphanet simple map | 79085 |
SNOMED CT to ICD-10 extended map | Target | E88.1 | Rule | TRUE | Advice | ALWAYS E88.1 | 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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