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

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

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

\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 (disorder)

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

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

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

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

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

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

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...

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

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

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

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

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

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

\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 (disorder)

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

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

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 (core metadata concept) SNOMED CT core

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

3774802010 A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3774803017 A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fibre uniformity, absent or abnormally small type 2A fibres, increased variability of fibre size, internalised nuclei and/or fatty infiltration. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10040251000172119 myopathie autosomique récessive avec ophtalmoplégie externe débutant dans l'enfance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4089671000172110 autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oftalmoplegie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4089681000172113 autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oogspierverlamming nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

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
3774798014	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3774799018	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3774802010	A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3774803017	A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fibre uniformity, absent or abnormally small type 2A fibres, increased variability of fibre size, internalised nuclei and/or fatty infiltration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10040251000172119	myopathie autosomique récessive avec ophtalmoplégie externe débutant dans l'enfance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4089671000172110	autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oftalmoplegie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4089681000172113	autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oogspierverlamming	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)