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783556000: 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


0 descendants.

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) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) est un(e) (attribut) Childhood obesity (disorder) true Inferred relationship Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) est un(e) (attribut) Severe obesity true Inferred relationship Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) interprète (attribut) mesure du poids corporel true Inferred relationship Some 2
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) survenue (attribut) enfance true Inferred relationship Some 1
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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