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

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos de l'observation du patient\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Severe obesity\Obesity due to SIM1 deficiency
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Obesity due to SIM1 deficiency
• \Disease\Obesity (disorder)\Severe obesity\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	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

Expanded Value Set

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