Nathalie syndrome 716170005
SNOMED CT code
| SNOMED code | 716170005 |
|---|---|
| name | Nathalie syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Deafness with cataract and skeletal anomaly syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group1 | |
| Finding site | Lens clear 78076003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Opacity 128305008 |
| attributes - group3 | |
| Finding site | Auditory structure 91159003 |
| attributes - group4 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Sensorineural hearing loss 60700002 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Nathalie syndrome 716170005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Nathalie syndrome 716170005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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