Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759511016 | PLIN1-related familial partial lipodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759512011 | Perilipin 1 related familial partial lipodystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759513018 | FPLD4 - familial partial lipodystrophy type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759514012 | Perilipin 1 related familial partial lipodystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759515013 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759516014 | 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, dyslipidaemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Perilipin 1 related familial partial lipodystrophy (disorder) | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Perilipin 1 related familial partial lipodystrophy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Perilipin 1 related familial partial lipodystrophy (disorder) | Is a | Insulin resistance (disorder) | true | Inferred relationship | Some | ||
| Perilipin 1 related familial partial lipodystrophy (disorder) | Is a | Familial partial lipodystrophy | true | Inferred relationship | Some | ||
| Perilipin 1 related familial partial lipodystrophy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Perilipin 1 related familial partial lipodystrophy (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Perilipin 1 related familial partial lipodystrophy (disorder) | Finding site | Subcutaneous fatty tissue | true | Inferred relationship | Some | 1 | |
| Perilipin 1 related familial partial lipodystrophy (disorder) | Finding site | Trunk structure | true | Inferred relationship | Some | 3 | |
| Perilipin 1 related familial partial lipodystrophy (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 4 | |
| Perilipin 1 related familial partial lipodystrophy (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 | |
| Perilipin 1 related familial partial lipodystrophy (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR