1217371005: Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Finding of movement\Movement disorder\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Congenital anomaly of visual system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Decreased muscle tone (finding)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disorder of skeletal muscle\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Movement disorder\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5036032016	Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036033014	Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036034015	SYT1-related neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5036035019	Synaptotagmin 1-related neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036036018	Baker Gordon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399934017	A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399935016	A rare genetic neurological disorder characterised by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioural abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5036032016	Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036033014	Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036034015	SYT1-related neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5036035019	Synaptotagmin 1-related neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036036018	Baker Gordon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5036037010	A rare genetic neurological disorder with characteristics of infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioural abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5036038017	A rare genetic neurological disorder with characteristics of infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399934017	A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399935016	A rare genetic neurological disorder characterised by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioural abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
521311000274115	SYT1-assoziierte neurologische Entwicklungsstörung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391651001000118	Infantile Hypotonie-okulomotorische Anomalien-hyperkinetische Bewegungsstörungen-Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
521311000274115	SYT1-assoziierte neurologische Entwicklungsstörung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391651001000118	Infantile Hypotonie-okulomotorische Anomalien-hyperkinetische Bewegungsstörungen-Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

Back to Start