Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697870012 | Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697871011 | FPLD3 - familial partial lipodystrophy type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697872016 | PPARG-related familial partial lipodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697873014 | Familial partial lipodystrophy type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697874015 | Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697875019 | A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidaemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697876018 | A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Is a | Familial partial lipodystrophy | true | Inferred relationship | Some | ||
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Finding site | Trunk structure | true | Inferred relationship | Some | 2 | |
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 3 | |
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Finding site | Subcutaneous fatty tissue | true | Inferred relationship | Some | 1 | |
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR