763829004: Oculopharyngodistal myopathy (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)

\Digestive system finding (finding)\Finding of pharynx\Pharyngeal paresis\Oculopharyngodistal myopathy (disorder)
\Digestive system finding (finding)\Finding of pharynx\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Oculopharyngodistal myopathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\Oculopharyngodistal myopathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)

\Finding of neck region\Pharyngeal paresis\Oculopharyngodistal myopathy (disorder)
\Finding of neck region\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Oculopharyngodistal myopathy (disorder)

\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Ear, nose and throat finding\Upper respiratory tract finding\Finding of pharynx\Pharyngeal paresis\Oculopharyngodistal myopathy (disorder)
\Ear, nose and throat finding\Upper respiratory tract finding\Finding of pharynx\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Pharyngeal paresis\Oculopharyngodistal myopathy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculopharyngodistal myopathy (disorder)

\Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Respiratory finding\Upper respiratory tract finding\Finding of pharynx\Pharyngeal paresis\Oculopharyngodistal myopathy (disorder)
\Respiratory finding\Upper respiratory tract finding\Finding of pharynx\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Chronic disease of respiratory system\Oculopharyngodistal myopathy (disorder)

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Pharyngeal paresis\Oculopharyngodistal myopathy (disorder)
\Muscle finding\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Muscle finding\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Pharyngeal paresis\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal disorder of the neck\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)

\Disease\Genetic disease\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculopharyngodistal myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Oculopharyngodistal myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Chronic digestive system disorder\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Chronic disease of respiratory system\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal disorder of the neck\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of pharynx\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy (disorder)
\Disease\Chronic disease\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy (disorder)
\Disease\Chronic disease\Chronic digestive system disorder\Oculopharyngodistal myopathy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Chronic disease\Chronic disease of respiratory system\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Developmental disorder\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Oculopharyngodistal myopathy (disorder)
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy (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

3644147018 Oculopharyngodistal myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644148011 Oculopharyngeal distal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644149015 Oculopharyngodistal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644150015 OPDM - oculopharyngodistal myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3644151016 A rare genetic neuromuscular disease with characteristics of progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculopharyngodistal myopathy (disorder)	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Disorder of pharynx	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Pharyngeal paresis	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Congenital ptosis (disorder)	false	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Oculopharyngodistal myopathy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	4
Oculopharyngodistal myopathy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	4
Oculopharyngodistal myopathy (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Oculopharyngodistal myopathy (disorder)	Finding site	Upper eyelid structure	true	Inferred relationship	Some	2
Oculopharyngodistal myopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Oculopharyngodistal myopathy (disorder)	Associated morphology	Congenital prolapse	false	Inferred relationship	Some	2
Oculopharyngodistal myopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Oculopharyngodistal myopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Oculopharyngodistal myopathy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Oculopharyngodistal myopathy (disorder)	Finding site	Muscle structure of pharynx	false	Inferred relationship	Some	3
Oculopharyngodistal myopathy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Oculopharyngodistal myopathy (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
Oculopharyngodistal myopathy (disorder)	Is a	Ptosis of eyelid	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Finding site	Muscle structure of pharynx	true	Inferred relationship	Some	3
Oculopharyngodistal myopathy (disorder)	Is a	Chronic disease of respiratory system	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Chronic digestive system disorder	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Chronic disease of ocular adnexa	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Is a	Chronic disease of musculoskeletal system	false	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Associated morphology	Prolapse (morphologic abnormality)	true	Inferred relationship	Some	2
Oculopharyngodistal myopathy (disorder)	Is a	Musculoskeletal disorder of the neck	true	Inferred relationship	Some
Oculopharyngodistal myopathy (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4

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
3644147018	Oculopharyngodistal myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644148011	Oculopharyngeal distal myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644149015	Oculopharyngodistal myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644150015	OPDM - oculopharyngodistal myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644151016	A rare genetic neuromuscular disease with characteristics of progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core