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783719006: Obesity due to SIM bHLH transcription factor 1 deficiency (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\...
    • \Body measurement finding\Weight finding\High body weight (finding)\Obese\Obesity\...
      • \Severe obesity\A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
      • \Childhood obesity (disorder)\Genetic non-syndromic obesity\A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
    • \Disease\Genetic disease\Genetic non-syndromic obesity\A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
    • \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
    • \Disease\Obesity\Severe obesity\A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
    • \Disease\Obesity\Childhood obesity (disorder)\Genetic non-syndromic obesity\A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.

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
3759929016 Obesity due to SIM bHLH transcription factor 1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3759930014 Obesity due to SIM1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3759931013 Obesity due to SIM bHLH transcription factor 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3759932018 A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759933011 A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759929016 Obesity due to SIM bHLH transcription factor 1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3759930014 Obesity due to SIM1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3759931013 Obesity due to SIM bHLH transcription factor 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3759932018 A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759933011 A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3418301001000112 Adipositas durch SIM1-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418301001000112 Adipositas durch SIM1-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
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Is a obésité selon l'âge d'apparition false Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Is a Severe obesity true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Occurrence Infancy false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Interprets Body weight false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Is a Genetic non-syndromic obesity true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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