Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000
SNOMED CT code
| SNOMED code | 717812000 |
|---|---|
| name | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Lens clear 78076003 |
| Associated morphology | Opacity 128305008 |
| attributes - group2 | |
| Finding site | Myocardium structure 74281007 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Hypertrophy 56246009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Due to | Mitochondrial cytopathy 240096000 |
| attributes - group4 | |
| Finding site | Skeletal muscle structure 127954009 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Mitochondrial myopathy 16851005 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Myocardial finding 251052000 Myocardial disease 57809008 Congenital anomaly of myocardium 204394002 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Cardiac complication 40172005 Mitochondrial cardiomyopathy 472315005 Hypertrophic mitochondrial cardiomyopathy 472316006 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Secondary myopathy 60738003 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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