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700150001: Congenital leptin deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Childhood obesity (disorder)\Genetic non-syndromic obesity (disorder)\Congenital leptin deficiency

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency

\Disease\Genetic disease\Genetic non-syndromic obesity (disorder)\Congenital leptin deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Congenital leptin deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital leptin deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital leptin deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital leptin deficiency
\Disease\Obesity (disorder)\Childhood obesity (disorder)\Genetic non-syndromic obesity (disorder)\Congenital leptin deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Congenital leptin deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital leptin deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital leptin deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital leptin deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Congenital leptin deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2989311014 Congenital leptin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2989546019 Congenital leptin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5159491011 Obesity due to congenital leptin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5159426012 A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital leptin deficiency	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital leptin deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital leptin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital leptin deficiency	Is a	Genetic non-syndromic obesity (disorder)	true	Inferred relationship	Some
Congenital leptin deficiency	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Congenital leptin deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Congenital leptin deficiency	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Congenital leptin deficiency	Is a	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Congenital leptin deficiency	Occurrence	Childhood	true	Inferred relationship	Some	4
Congenital leptin deficiency	Interprets	Body weight measure	true	Inferred relationship	Some	3
Congenital leptin deficiency	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Congenital leptin deficiency	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Congenital leptin deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital leptin deficiency	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2989311014	Congenital leptin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2989546019	Congenital leptin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159491011	Obesity due to congenital leptin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159426012	A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core