785722006: obesitas door genetisch bepaalde leptinereceptordeficiëntie (aandoening)

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)\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene deficiency
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene deficiency

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Severe obesity\Obesity due to leptin receptor gene deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Obesity due to leptin receptor gene deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\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)\Obesity due to leptin receptor gene deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Obesity due to leptin receptor gene deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Obesity due to leptin receptor gene deficiency
\Finding of trunk structure\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)\Obesity due to leptin receptor gene deficiency

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Obesity due to leptin receptor gene deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Obesity due to leptin receptor gene deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Obesity due to leptin receptor gene deficiency
\Disease\Obesity (disorder)\Severe obesity\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene 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\Obesity due to leptin receptor gene 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)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Obesity due to leptin receptor gene deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3768151015 Obesity due to leptin receptor gene deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3768152010 Obesity due to leptin receptor gene deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

9209981000146118 obesitas door genetisch bepaalde leptinereceptordeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9460341000146119 obesitas door mutatie in gen voor leptinereceptor nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12666891000146112 obesitas door genetisch bepaalde leptinereceptordeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4304326012 A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. 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
Obesity due to leptin receptor gene deficiency	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Obesity due to leptin receptor gene deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Obesity due to leptin receptor gene deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Obesity due to leptin receptor gene deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2
Obesity due to leptin receptor gene deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Obesity due to leptin receptor gene deficiency	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	2
Obesity due to leptin receptor gene deficiency	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Obesity due to leptin receptor gene deficiency	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Obesity due to leptin receptor gene deficiency	Is a	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Obesity due to leptin receptor gene deficiency	Is a	Severe obesity	true	Inferred relationship	Some
Obesity due to leptin receptor gene deficiency	Interprets	Body weight measure	true	Inferred relationship	Some	3
Obesity due to leptin receptor gene deficiency	Has interpretation	Above reference range	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3768151015	Obesity due to leptin receptor gene deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3768152010	Obesity due to leptin receptor gene deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9209981000146118	obesitas door genetisch bepaalde leptinereceptordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9460341000146119	obesitas door mutatie in gen voor leptinereceptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12666891000146112	obesitas door genetisch bepaalde leptinereceptordeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4304326012	A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core