1380254000: Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Finding of movement (finding)\Bradykinesia (finding)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Functional finding\Communication disorder\Speech and language disorder\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Speech finding\Speech and language finding\Communication, speech and language finding\Communication disorder\Speech and language disorder\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Genetic disease\Genetic intellectual disability\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Communication disorder\Speech and language disorder\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Neurodevelopmental delay (disorder)\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Neurodevelopmental delay (disorder)\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5498996014	Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5498997017	Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5498999019	A rare genetic neurological disorder characterized by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalized and absence seizures, infantile spasms and rolandic epilepsy) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5499000017	A rare genetic neurological disorder characterised by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalised and absence seizures, infantile spasms and rolandic epilepsy) and behavioural problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbour 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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