Congenital cataract with ataxia and deafness syndrome 719102004
SNOMED CT code
| SNOMED code | 719102004 |
|---|---|
| name | Congenital cataract with ataxia and deafness syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Congenital cataract with ataxia and deafness syndrome (disorder) |
| synonyms | Congenital cataract with ataxia and deafness syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Lens clear 78076003 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Opacity 128305008 |
| attributes - group2 | |
| Finding site | Auditory structure 91159003 |
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group5 | |
| Finding site | Nervous system structure 25087005 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Hearing 47078008 |
| 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 Congenital cataract with ataxia and deafness syndrome 719102004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Congenital cataract with ataxia and deafness syndrome 719102004 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 Congenital cataract with ataxia and deafness syndrome 719102004 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Congenital cataract with ataxia and deafness syndrome 719102004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Congenital cataract with ataxia and deafness syndrome 719102004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Congenital cataract with ataxia and deafness syndrome 719102004 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Sensorineural hearing loss 60700002 Congenital cataract with ataxia and deafness syndrome 719102004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Congenital cataract with ataxia and deafness syndrome 719102004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Congenital cataract with ataxia and deafness syndrome 719102004 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 with ataxia and deafness syndrome 719102004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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