1156857003: Autosomal dominant progressive external ophthalmoplegia type 1 (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Eye / vision finding\Visual system disorder\...

\Disorder of eye region\Disorder of ocular adnexa\...

\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Disorder of eye movements\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Metabolic disease\Chronic metabolic disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Chronic disease\Chronic metabolic disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of soft tissue\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4576340013 Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4576341012 Autosomal dominant progressive external ophthalmoplegia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4576340013 Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4576341012 Autosomal dominant progressive external ophthalmoplegia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

514821000274114 adPEO - Autosomal-dominante externe progressive Ophthalmoplegie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

591801000274119 Autosomal-dominante externe progressive Ophthalmoplegie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5759821000241115 ophtalmoplégie externe progressive autosomique dominante de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5759821000241115 ophtalmoplégie externe progressive autosomique dominante de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

514821000274114 adPEO - Autosomal-dominante externe progressive Ophthalmoplegie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

591801000274119 Autosomal-dominante externe progressive Ophthalmoplegie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant progressive external ophthalmoplegia type 1	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant progressive external ophthalmoplegia type 1	Finding site	Structure of extraocular muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant progressive external ophthalmoplegia type 1	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant progressive external ophthalmoplegia type 1	Is a	Autosomal dominant progressive external ophthalmoplegia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant progressive external ophthalmoplegia type 1	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Autosomal dominant progressive external ophthalmoplegia type 1	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal dominant progressive external ophthalmoplegia type 1	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets