Colobomatous macrophthalmia with microcornea syndrome 1179296003
SNOMED CT code
| SNOMED code | 1179296003 |
|---|---|
| name | Colobomatous macrophthalmia with microcornea syndrome |
| status | active |
| date introduced | 2021-10-31 |
| fully specified name(s) | Colobomatous macrophthalmia with microcornea syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Iris structure 41296002 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Optic disc structure 81016008 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Corneal structure 28726007 |
| Associated morphology | Congenital smallness 41086002 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Enlargement 442021009 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Entire eye proper 1290040004 |
| 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 Colobomatous macrophthalmia with microcornea syndrome 1179296003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of eye 371405004 Disorder of anterior segment of eye 128535002 Disorder of cornea 15250008 Congenital anomaly of cornea 128352002 Microcornea 26098002 Colobomatous macrophthalmia with microcornea syndrome 1179296003 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Inherited optic neuropathy 312942003 Colobomatous macrophthalmia with microcornea syndrome 1179296003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Colobomatous macrophthalmia with microcornea syndrome 1179296003 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Congenital coloboma of optic disc 44295002 Colobomatous macrophthalmia with microcornea syndrome 1179296003 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of eye 19416009 Coloboma of eye 93390002 Congenital coloboma of iris 51485001 Colobomatous macrophthalmia with microcornea syndrome 1179296003 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of eye 19416009 Macrophthalmos 93181004 Colobomatous macrophthalmia with microcornea syndrome 1179296003 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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