Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009
SNOMED CT code
| SNOMED code | 724349009 |
|---|---|
| name | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) |
| synonyms |
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| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Contracture 57048009 |
| Finding site | Structure of joint region 785818007 |
| attributes - group3 | |
| Interprets | Range of joint movement 364564000 |
| Has interpretation | Decreased 1250004 |
| attributes - group5 | |
| Finding site | Structure of extraocular muscle 67833000 |
| attributes - group6 | |
| Interprets | Movement observable 363847004 |
| Has interpretation | Absent 2667000 |
| attributes - group4 | |
| Finding site | Nervous system structure 25087005 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Orbit finding 246912006 Disorder of orbit proper 371436007 Disorder of extraocular muscle 128603005 External ophthalmoplegia 19373007 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Congenital anomaly of skeletal muscle 89886004 Myopathy with cytoplasmic inclusions 240086009 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Inherited arthrogryposis 28204005 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 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 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 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 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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