763352005: Familial dyskinesia and facial myokymia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of movement (finding)\Movement disorder\Familial dyskinesia and facial myokymia (disorder)
\Finding of movement (finding)\Motor dysfunction\Dyskinesia\Familial dyskinesia and facial myokymia (disorder)

\General finding of soft tissue\Muscle irritability\Myokymia\Facial myokymia\Familial dyskinesia and facial myokymia (disorder)
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Facial nerve disorder (disorder)\Familial dyskinesia and facial myokymia (disorder)
\General finding of soft tissue\Peripheral nerve finding\Seventh cranial nerve finding\Familial dyskinesia and facial myokymia (disorder)
\General finding of soft tissue\Peripheral nerve finding\Facial myokymia\Familial dyskinesia and facial myokymia (disorder)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Familial dyskinesia and facial myokymia (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve (disorder)\Familial dyskinesia and facial myokymia (disorder)

\Finding of head and neck region\Facial nerve disorder (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Finding of head and neck region\Seventh cranial nerve finding\Familial dyskinesia and facial myokymia (disorder)
\Finding of head and neck region\Facial myokymia\Familial dyskinesia and facial myokymia (disorder)

\Muscle finding\Muscle irritability\Myokymia\Facial myokymia\Familial dyskinesia and facial myokymia (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve (disorder)\Familial dyskinesia and facial myokymia (disorder)

\Musculoskeletal finding\Muscle irritability\Myokymia\Facial myokymia\Familial dyskinesia and facial myokymia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial dyskinesia and facial myokymia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve (disorder)\Familial dyskinesia and facial myokymia (disorder)

\Neurological finding\Cranial nerve finding\Seventh cranial nerve finding\Familial dyskinesia and facial myokymia (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Dyskinesia\Familial dyskinesia and facial myokymia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial dyskinesia and facial myokymia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial dyskinesia and facial myokymia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Facial nerve disorder (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Facial nerve disorder (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Disease\Movement disorder\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Familial dyskinesia and facial myokymia (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve (disorder)\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

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

1010661000172117 dyskinésie familiale avec myokymie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

873401000172116 familiale dyskinesie en faciale myokymie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

885381000172112 FDFM - familiale dyskinesie en faciale myokymie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial dyskinesia and facial myokymia (disorder)	Is a	Facial myokymia	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Dyskinesia	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Movement disorder	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Seventh cranial nerve finding	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Combined disorder of muscle AND peripheral nerve (disorder)	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	Facial nerve disorder (disorder)	true	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Finding site	Facial nerve structure	true	Inferred relationship	Some	2
Familial dyskinesia and facial myokymia (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Familial dyskinesia and facial myokymia (disorder)	Interprets	Movement	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
1010661000172117	dyskinésie familiale avec myokymie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
873401000172116	familiale dyskinesie en faciale myokymie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
885381000172112	FDFM - familiale dyskinesie en faciale myokymie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)