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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\...
• \Severe obesity\Obesity due to SIM1 deficiency
• \Genetic obesity disorder (disorder)\Genetic childhood obesity disorder\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Childhood obesity (disorder)\Genetic childhood obesity disorder\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Disease\Genetic disease\Genetic obesity disorder (disorder)\Genetic childhood obesity disorder\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Obesity due to SIM1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Obesity due to SIM1 deficiency
• \Disease\Obesity (disorder)\Severe obesity\Obesity due to SIM1 deficiency
• \Disease\Obesity (disorder)\Genetic obesity disorder (disorder)\Genetic childhood obesity disorder\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Disease\Obesity (disorder)\Childhood obesity (disorder)\Genetic childhood obesity disorder\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Obesity due to SIM1 deficiency
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Obesity due to SIM1 deficiency
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Genetic non-syndromic childhood obesity (disorder)\Obesity due to SIM1 deficiency

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	Inactive	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408622017	A rare, genetic form of obesity characterized by 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
5408623010	A rare, genetic form of obesity characterised by 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

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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