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770786001: Hereditary inclusion body myopathy type 4 (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3702792017 Hereditary inclusion body myopathy type 4 en Synonym Active Case insensitive SNOMED CT core
3702793010 A rare non-dystrophic myopathy with characteristics of 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary inclusion body myopathy type 4 Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 Pathological process Pathological developmental process true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 Is a Developmental hereditary disorder true Inferred relationship Some
Hereditary inclusion body myopathy type 4 Is a Myopathy with cytoplasmic inclusions true Inferred relationship Some
Hereditary inclusion body myopathy type 4 Occurrence Congenital true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 Finding site Skeletal muscle structure true Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary inclusion body myopathy type 4 Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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