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783556000: Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)

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

\General finding of observation of patient\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\...

\Severe obesity\Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)

\Childhood obesity (disorder)\Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)
\Disease\Obesity (disorder)\Severe obesity\Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)
\Disease\Obesity (disorder)\Childhood obesity (disorder)\Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)

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

3759336011 Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3759337019 Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3759338012 Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3759339016 A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3759340019 A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5313631000052112 syndrom med tidigt debuterande allvarlig fetma med insulinresistens orsakat av SH2B1-brist sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	Is a	Childhood obesity (disorder)	true	Inferred relationship	Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	Is a	Severe obesity	true	Inferred relationship	Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	Interprets	Body weight measure	true	Inferred relationship	Some	2
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	1
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2

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
3759336011	Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3759337019	Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3759338012	Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3759339016	A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759340019	A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5313631000052112	syndrom med tidigt debuterande allvarlig fetma med insulinresistens orsakat av SH2B1-brist	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)