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49292002: Familial partial lipodystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
82115011 Familial lipodystrophy of limbs AND/OR trunk en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
198186010 Familial partial lipodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
786954016 Familial partial lipodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial partial lipodystrophy (disorder) Is a Lipodystrophy false Inferred relationship Some
Familial partial lipodystrophy (disorder) Is a Disorder of trunk (disorder) true Inferred relationship Some
Familial partial lipodystrophy (disorder) Finding site Subcutaneous fatty tissue false Inferred relationship Some 2
Familial partial lipodystrophy (disorder) Finding site Skin structure false Inferred relationship Some 1
Familial partial lipodystrophy (disorder) Finding site Trunk structure (body structure) true Inferred relationship Some 3
Familial partial lipodystrophy (disorder) Finding site Limb structure true Inferred relationship Some 2
Familial partial lipodystrophy (disorder) Associated morphology Dystrophy false Inferred relationship Some 2
Familial partial lipodystrophy (disorder) Is a Disorder of limb (disorder) false Inferred relationship Some
Familial partial lipodystrophy (disorder) Is a Disorder of soft tissue of limb false Inferred relationship Some
Familial partial lipodystrophy (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Familial partial lipodystrophy (disorder) Is a Disorder of limb (disorder) true Inferred relationship Some
Familial partial lipodystrophy (disorder) Finding site Skin structure false Inferred relationship Some 1
Familial partial lipodystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Familial partial lipodystrophy (disorder) Finding site Subcutaneous fatty tissue true Inferred relationship Some 1
Familial partial lipodystrophy (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Familial partial lipodystrophy (disorder) Is a Genetic lipodystrophy (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some
Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some
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. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some
A rare familial partial lipodystrophy characterized by 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 xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some
A rare familial partial lipodystrophy characterized by 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. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some
A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. Is a True Familial partial lipodystrophy (disorder) Inferred relationship Some

Reference Sets

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