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764733009: Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3654902013 Progressive external ophthalmoplegia, myopathy, emaciation syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3654903015 Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3654905010 PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3654906011 Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Mitochondrial myopathy true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Progressive external ophthalmoplegia true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Metabolic encephalopathy true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Congenital disease true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 3
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier 1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Finding site Eye region structure true Inferred relationship Existential restriction modifier 2
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Chronic brain syndrome true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Myopathy of extraocular muscles true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier 5
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Finding site Structure of extraocular muscle true Inferred relationship Existential restriction modifier 4
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Interprets Movement true Inferred relationship Existential restriction modifier 7
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Interprets Movement observable true Inferred relationship Existential restriction modifier 6
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Has interpretation Absent true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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