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1260139006: Genetic non-syndromic obesity (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5159417014 Genetic non-syndromic obesity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159418016 Genetic non-syndromic obesity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400410014 A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400411013 A rare genetic disease characterised by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5159417014 Genetic non-syndromic obesity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159418016 Genetic non-syndromic obesity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159419012 A rare genetic disease with characteristics of early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate or hypogonadism among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400410014 A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400411013 A rare genetic disease characterised by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic non-syndromic obesity Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Genetic non-syndromic obesity Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic non-syndromic obesity Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic non-syndromic obesity Is a Childhood obesity (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Genetic non-syndromic obesity Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital leptin deficiency Is a True Genetic non-syndromic obesity Inferred relationship Existential restriction modifier (core metadata concept)
Obesity due to CEP19 deficiency Is a True Genetic non-syndromic obesity Inferred relationship Existential restriction modifier (core metadata concept)
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) Is a True Genetic non-syndromic obesity Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Is a True Genetic non-syndromic obesity Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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