1208615009: Neurogenic scapuloperoneal syndrome Kaeser type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of shoulder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Neurogenic scapuloperoneal syndrome Kaeser type
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Neurogenic scapuloperoneal syndrome Kaeser type
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of shoulder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Finding of limb structure\Finding of upper limb\Finding of shoulder region\Disorder of shoulder\Neurogenic scapuloperoneal syndrome Kaeser type
• \General finding of soft tissue\Disorder of soft tissue\...
• \Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disorder of skeletal muscle\Myoneural disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disorder of skeletal muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Muscle finding\Myopathy\...
• \Degenerative disorder of muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disorder of skeletal muscle\Myoneural disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disorder of skeletal muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type
• \Degenerative disorder of musculoskeletal system\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disorder of skeletal muscle\Myoneural disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disorder of skeletal muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of joint region\Disorder of shoulder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Myopathy\Degenerative disorder of muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Myopathy\Disorder of skeletal muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of shoulder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neurogenic scapuloperoneal syndrome Kaeser type
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscle atrophy\Neurogenic scapuloperoneal syndrome Kaeser type

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4965392013	Stark Kaeser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4965393015	Neurogenic scapuloperoneal syndrome Kaeser type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4965394014	Kaeser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4965395010	Neurogenic scapuloperoneal syndrome Kaeser type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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