Aniridia and absent patella syndrome 720467005
SNOMED CT code
| SNOMED code | 720467005 |
|---|---|
| name | Aniridia and absent patella syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Aniridia and absent patella syndrome (disorder) |
| synonyms | Aniridia and absent patella syndrome |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure of patella 64234005 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Iris structure 41296002 |
| Associated morphology | Absence 418560003 |
| 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 Aniridia and absent patella syndrome 720467005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Aniridia and absent patella syndrome 720467005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Aniridia and absent patella syndrome 720467005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Aniridia and absent patella syndrome 720467005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Aniridia and absent patella syndrome 720467005 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 Congenital anomaly of anterior segment of eye 429448005 Congenital anomaly of iris 128985003 Congenital aniridia 69278003 Aniridia and absent patella syndrome 720467005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Congenital anomaly of patella 890399008 Aniridia and absent patella syndrome 720467005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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