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770786001: Hereditary inclusion body myopathy type 4 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702791012 Hereditary inclusion body myopathy type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702792017 Hereditary inclusion body myopathy type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404929016 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404930014 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterised by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. 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
Hereditary inclusion body myopathy type 4 (disorder) Is a Myopathy with cytoplasmic inclusions true Inferred relationship Some
Hereditary inclusion body myopathy type 4 (disorder) Occurrence Congenital true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary inclusion body myopathy type 4 (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hereditary inclusion body myopathy type 4 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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