| familiaire partiële lipodystrofie gerelateerd aan perilipine 1 (aandoening) | | familiaire partiële lipodystrofie gerelateerd aan perilipine 1 | | familiaire partiële lipodystrofie door PLIN1-mutatie
FPL4
| | Perilipin 1 related familial partial lipodystrophy | | FPLD4 - familial partial lipodystrophy type 4
PLIN1-related familial partial lipodystrophy
| | A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. |
| | Id | 783616005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.1 | | Term | Lipodystrofie, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 280356 |
| 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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