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724841000: Genetic lipodystrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3444898016 Genetic lipodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444899012 Genetic lipodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
984231000172110 lipodystrophie génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic lipodystrophy (disorder) Is a Subcutaneous fat disorder false Inferred relationship Some
Genetic lipodystrophy (disorder) Is a Degenerative disorder false Inferred relationship Some
Genetic lipodystrophy (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Some
Genetic lipodystrophy (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Genetic lipodystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Genetic lipodystrophy (disorder) Finding site Subcutaneous fatty tissue true Inferred relationship Some 1
Genetic lipodystrophy (disorder) Is a Lipodystrophy true Inferred relationship Some
Genetic lipodystrophy (disorder) Is a Genetic disease 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 False Genetic lipodystrophy (disorder) Inferred relationship Some
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Is a True Genetic 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 False Genetic lipodystrophy (disorder) Inferred relationship Some
A rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Is a True Genetic lipodystrophy (disorder) Inferred relationship Some
Familial partial lipodystrophy (disorder) Is a True Genetic lipodystrophy (disorder) Inferred relationship Some
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. Is a True Genetic lipodystrophy (disorder) Inferred relationship Some
Generalized congenital lipodystrophy with myopathy (disorder) Is a True Genetic lipodystrophy (disorder) Inferred relationship Some
A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal. Is a True Genetic lipodystrophy (disorder) Inferred relationship Some

This concept is not in any reference sets

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