Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome 1172636006
SNOMED CT code
| SNOMED code | 1172636006 |
|---|---|
| name | Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) |
| synonyms | Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome |
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Structure of iris of right eye 22936001 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Structure of iris of left eye 28153001 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Finding site | Retinal structure 5665001 |
| Associated morphology | Dystrophy 4720007 |
| 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 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome 1172636006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital coloboma of iris of right eye 15665681000119108 Congenital coloboma of bilateral irides 15665721000119102 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome 1172636006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome 1172636006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome 1172636006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary retinal dystrophy 41799005 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome 1172636006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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