PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
SNOMED CT code
| SNOMED code | 1228871002 |
|---|---|
| name | PCNA-related progressive neurodegenerative photosensitivity syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Clinical course | Progressive 255314001 |
| attributes - group4 | |
| Finding site | Auditory structure 91159003 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Decreased 1250004 |
| attributes - group1 | |
| Finding site | Nervous system structure 25087005 |
| Associated morphology | Degenerative abnormality 107669003 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 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 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital sensorineural hearing loss 700453005 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Congenital degeneration of nervous system 95477007 PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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