1208615009: Neurogenic scapuloperoneal syndrome Kaeser type (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of shoulder region (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of shoulder region (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of shoulder region\Disorder of shoulder region (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\...
• \Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \affection d'un muscle squelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \constatation à propos d'un muscle\affection musculaire\...
• \Degenerative disorder of muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \affection d'un muscle squelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \affection dégénérative du système musculosquelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \affection d'un muscle squelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\Disorder of joint region\Disorder of shoulder region (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection dégénérative\Degenerative disorder of muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Hereditary motor neuron disease (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection musculaire\Degenerative disorder of muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'une extrémité\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of shoulder region (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4965392013	Stark Kaeser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965393015	Neurogenic scapuloperoneal syndrome Kaeser type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4965394014	Kaeser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965395010	Neurogenic scapuloperoneal syndrome Kaeser type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4965396011	A rare genetic neuromuscular disease with characteristics of adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Caused by heterozygous mutation in the DES gene on chromosome 2q35.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965397019	A rare genetic neuromuscular disease with characteristics of adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynaecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Caused by heterozygous mutation in the DES gene on chromosome 2q35.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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