| 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 with characteristics of 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. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. |
| | 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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