Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004
SNOMED CT code
| SNOMED code | 787172004 |
|---|---|
| name | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) |
| synonyms | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
| attributes - group2 | |
| Occurrence | Childhood 255398004 |
| Finding site | Peripheral nervous system structure 3058005 |
| attributes - group3 | |
| Occurrence | Childhood 255398004 |
| Finding site | Eye region structure 371398005 |
| attributes - group1 | |
| Occurrence | Childhood 255398004 |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group5 | |
| Finding site | Structure of extraocular muscle 67833000 |
| attributes - group7 | |
| Interprets | Movement 255324009 |
| attributes - group6 | |
| Interprets | Movement observable 363847004 |
| Has interpretation | Absent 2667000 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Myoneural disorder 257277002 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of musculoskeletal system 128237006 Progressive external ophthalmoplegia 46252003 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Orbit finding 246912006 Disorder of orbit proper 371436007 Disorder of extraocular muscle 128603005 Myopathy of extraocular muscles 57130002 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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