1351655009: Jansen-de Vries syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Jansen-de Vries syndrome (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Jansen-de Vries syndrome (disorder)
• \Developmental disorder\Neurodevelopmental disorder\Jansen-de Vries syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Jansen-de Vries syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5408290014	JDVS - Jansen-de Vries syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408291013	Jansen-de Vries syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408292018	Jansen-de Vries syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408293011	Developmental delay, behavioural problems, small hands and feet, cyclic vomiting, dysmorphic features syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5408294017	Developmental delay, behavioral problems, small hands and feet, cyclic vomiting, dysmorphic features syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415408018	A rare multiple congenital anomalies/dysmorphic syndrome characterised by mild to severe intellectual disability and/or developmental delay, speech delay, behavioural problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomiting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, hypotonia and broad-based gait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415409014	A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability and/or developmental delay, speech delay, behavioral problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomiting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, hypotonia and broad-based gait.	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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