1281844004: Dystonia 28 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5400746016	A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400747013	A rare persistent combined dystonia characterised by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalised dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239383014	Dystonia 28	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5239384015	DYT28 - dystonia 28	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239385019	Dystonia 28 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5239386018	KMT2B-related dystonia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239387010	Lysine methyltransferase 2B-related dystonia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (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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