1172591008: Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\constatation à propos de la langue\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\affection chronique de l'appareil digestif\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation générale à propos des tissus mous\constatation à propos de la langue\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of mouth region (finding)\...
• \maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Oral cavity finding\constatation à propos de la langue\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \affection de la tête\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \affection de la tête\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \déformation cyphotique de la colonne vertébrale\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \maladie chronique de l'appareil locomoteur\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \affection d'un muscle squelettique\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection dégénérative\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\affection chronique de l'appareil digestif\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation cyphotique de la colonne vertébrale\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection de la tête\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection de la tête\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\maladie chronique\affection chronique de l'appareil digestif\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\atrophie de la langue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634499018	Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634500010	Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634501014	A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634502019	A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioural abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fibre size variation, internalised nuclei, fibre atrophy, as well as rod structures and core targetoid defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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