Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001
SNOMED CT code
| SNOMED code | 726709001 |
|---|---|
| name | Intellectual disability, cataract, calcified pinna, myopathy syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
| synonyms |
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| attributes - group2 | |
| Finding site | Lens clear 78076003 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Opacity 128305008 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Pinna structure 113327001 |
| Associated morphology | Pathologic calcification 18115005 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Calcinosis 6595006 Pinnal calcification 232221001 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of ear 25906001 Congenital malformation of ear 275259005 Congenital abnormality of external ear 282038006 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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