Spondyloepiphyseal dysplasia MacDermot type 718763005
SNOMED CT code
| SNOMED code | 718763005 |
|---|---|
| name | Spondyloepiphyseal dysplasia MacDermot type |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group2 | |
| Finding site | Auditory structure 91159003 |
| attributes - group4 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Finding site | Visual structure 49549006 |
| parents |
|
| 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 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Spondyloepiphyseal dysplasia congenita 278713008 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of vision 95677002 Disorder of refraction AND/OR accommodation 72128008 Disorder of refraction 39021009 Myopia 57190000 Spondyloepiphyseal dysplasia MacDermot type 718763005 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Sensorineural hearing loss 60700002 Spondyloepiphyseal dysplasia MacDermot type 718763005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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