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763352005: Familial dyskinesia and facial myokymia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3638661018 Familial dyskinesia and facial myokymia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638662013 Familial dyskinesia and facial myokymia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638663015 FDFM - familial dyskinesia and facial myokymia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404030012 Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404031011 Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterised by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638661018 Familial dyskinesia and facial myokymia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638662013 Familial dyskinesia and facial myokymia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638663015 FDFM - familial dyskinesia and facial myokymia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638664014 A rare paroxysmal movement disorder with onset in childhood or adolescence. The disease has characteristics of paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404030012 Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404031011 Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterised by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440281001000119 Familiäre Dyskinesie und faziale Myokymie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1010661000172117 dyskinésie familiale avec myokymie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1010661000172117 dyskinésie familiale avec myokymie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440281001000119 Familiäre Dyskinesie und faziale Myokymie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial dyskinesia and facial myokymia (disorder) Is a Facial myokymia (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Dyskinesia true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Movement disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Seventh cranial nerve finding (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Myoneural disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a Facial nerve disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Finding site Facial nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial dyskinesia and facial myokymia (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial dyskinesia and facial myokymia (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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