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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
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
3396491001000117 Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396491001000117 Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) Is a Childhood obesity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) Is a Severe obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) Is a Genetic non-syndromic obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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