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763829004: myopathie oculo-pharyngo-distale (trouble)


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
766621000241118 myopathie oculo-pharyngo-distale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
918451000172114 myopathie oculo-pharyngo-distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
957871000172114 myopathie oculo-pharyngée distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Musculoskeletal disorder of the neck true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) dystrophie musculaire distale true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Disorder of pharynx true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Pharyngeal paresis true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Congenital ptosis of upper eyelid false Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Oculopharyngodistal myopathy (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 4
Oculopharyngodistal myopathy (disorder) localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 4
Oculopharyngodistal myopathy (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Oculopharyngodistal myopathy (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) true Inferred relationship Some 2
Oculopharyngodistal myopathy (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Oculopharyngodistal myopathy (disorder) morphologie associée (attribut) Congenital prolapse false Inferred relationship Some 2
Oculopharyngodistal myopathy (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Oculopharyngodistal myopathy (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Oculopharyngodistal myopathy (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 1
Oculopharyngodistal myopathy (disorder) localisation d'une constatation (attribut) Muscle structure of pharynx false Inferred relationship Some 3
Oculopharyngodistal myopathy (disorder) localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some 1
Oculopharyngodistal myopathy (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 1
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Ptosis of eyelid true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) localisation d'une constatation (attribut) Muscle structure of pharynx true Inferred relationship Some 3
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) Chronic disease of respiratory system true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) affection chronique de l'appareil digestif true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) maladie chronique des annexes de l'oeil true Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) maladie chronique de l'appareil locomoteur false Inferred relationship Some
Oculopharyngodistal myopathy (disorder) morphologie associée (attribut) Prolapse true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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