787172004: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

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

\Disorder of soft tissue of head\Disorder of extraocular muscle\...

\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\...

\Combined disorder of muscle AND peripheral nerve\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of nervous system\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Chronic disease\Chronic nervous system disorder\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3774798014 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3774799018 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier	2
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Chronic nervous system disorder	false	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Chronic disease of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	External ophthalmoplegia	false	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Combined disorder of muscle AND peripheral nerve	true	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier	3
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier	1
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Finding site	Eye region structure	true	Inferred relationship	Existential restriction modifier	3
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier	2
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	4
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Progressive external ophthalmoplegia	true	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Finding site	Structure of extraocular muscle	true	Inferred relationship	Existential restriction modifier	5
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Is a	Myopathy of extraocular muscles	true	Inferred relationship	Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	7
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier	6
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3774798014	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3774799018	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module