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1208615009: 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
5399850012 A rare, genetic, neuromuscular disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399851011 A rare, genetic, neuromuscular disease characterised by 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. 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
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Disorder of shoulder region (disorder) true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Disorder of lower leg (disorder) true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Myoneural disorder true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Disorder of soft tissue of lower limb true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Hereditary motor neuron disease true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a Muscle atrophy true Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 3
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Finding site Structure of skeletal muscle of shoulder (body structure) true Inferred relationship Some 1
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Associated morphology Atrophy true Inferred relationship Some 1
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Finding site Peroneal muscle structure true Inferred relationship Some 2
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Associated morphology Atrophy true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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