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787172004: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3774798014 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3774799018 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia en Synonym Active Case insensitive SNOMED CT core
3774802010 A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. en Definition Active Case sensitive SNOMED CT core
3774803017 A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fibre uniformity, absent or abnormally small type 2A fibres, increased variability of fibre size, internalised nuclei and/or fatty infiltration. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Hereditary disorder of the visual system true Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Hereditary disorder of nervous system true Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Occurrence Childhood true Inferred relationship Some 2
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Chronic nervous system disorder false Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Chronic disease of musculoskeletal system false Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a External ophthalmoplegia false Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Myoneural disorder true Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Occurrence Childhood true Inferred relationship Some 3
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Occurrence Childhood true Inferred relationship Some 1
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Finding site Eye region structure true Inferred relationship Some 3
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Finding site Peripheral nervous system structure true Inferred relationship Some 2
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Clinical course Progressive true Inferred relationship Some 4
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Finding site Skeletal muscle structure true Inferred relationship Some 1
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Progressive external ophthalmoplegia true Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Finding site Structure of extraocular muscle true Inferred relationship Some 5
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a Myopathy of extraocular muscles true Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Interprets Movement true Inferred relationship Some 7
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Interprets Movement observable true Inferred relationship Some 6
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Has interpretation Absent true Inferred relationship Some 6

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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