1303867005: Early-onset obesity, hyperphagia, severe developmental delay syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Severe obesity\Early-onset obesity, hyperphagia, severe developmental delay syndrome
• \Eating / feeding / drinking finding\Finding of appetite\Early-onset obesity, hyperphagia, severe developmental delay syndrome
• \Eating / feeding / drinking finding\Eating finding\Finding of eating pattern\Finding of quantity of eating\Excessive eating\Early-onset obesity, hyperphagia, severe developmental delay syndrome
• \Disease\Genetic disease\Early-onset obesity, hyperphagia, severe developmental delay syndrome
• \Disease\Obesity (disorder)\Severe obesity\Early-onset obesity, hyperphagia, severe developmental delay syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Early-onset obesity, hyperphagia, severe developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5308228014	Early-onset obesity, hyperphagia, severe developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308229018	Early-onset obesity, hyperphagia, severe developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308230011	A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5308231010	A rare syndromic obesity characterised by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviours, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases.	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)

Back to Start