763829004: Oculopharyngodistal myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

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

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Pharyngeal paresis\Oculopharyngodistal myopathy
\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
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Oculopharyngodistal myopathy

\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Oculopharyngodistal myopathy
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Oculopharyngodistal myopathy
\Finding of head and neck region\Finding of neck region\Pharyngeal paresis\Oculopharyngodistal myopathy
\Finding of head and neck region\Finding of neck region\Disorder of neck\Musculoskeletal disorder of the neck\Oculopharyngodistal myopathy
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system\Disorder of pharynx\Oculopharyngodistal myopathy
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Pharyngeal finding\Pharyngeal paresis\Oculopharyngodistal myopathy
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Pharyngeal finding\Disorder of pharynx\Oculopharyngodistal myopathy
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system\Disorder of pharynx\Oculopharyngodistal myopathy

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

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

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3644148011 Oculopharyngeal distal myopathy en Synonym Active Case insensitive SNOMED CT core

3644149015 Oculopharyngodistal myopathy en Synonym Active Case insensitive SNOMED CT core

3644150015 OPDM - oculopharyngodistal myopathy en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644147018	Oculopharyngodistal myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644148011	Oculopharyngeal distal myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3644149015	Oculopharyngodistal myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3644150015	OPDM - oculopharyngodistal myopathy	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core