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700150001: Congenital leptin deficiency (disorder)

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
2989311014 Congenital leptin deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5854961000241116 déficit congénital en leptine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5854961000241116 déficit congénital en leptine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital leptin deficiency Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital leptin deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Is a Genetic non-syndromic obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital leptin deficiency Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital leptin deficiency Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital leptin deficiency Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital leptin deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital leptin deficiency Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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