Coloboma of macula with brachydactyly type B syndrome 717785002
SNOMED CT code
SNOMED code | 717785002 |
---|---|
name | Coloboma of macula with brachydactyly type B syndrome |
status | active |
date introduced | 2017-01-31 |
fully specified name(s) | Coloboma of macula with brachydactyly type B syndrome (disorder) |
synonyms |
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attributes - group3 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Abnormally short growth 11182007 |
Occurrence | Congenital 255399007 |
Finding site | Entire digit 361367007 |
attributes - group1 | |
Pathological process | Pathological developmental process 308490002 |
Finding site | Bone structure 272673000 |
Associated morphology | Dysplasia 25723000 |
Occurrence | Congenital 255399007 |
attributes - group2 | |
Occurrence | Congenital 255399007 |
Pathological process | Pathological developmental process 308490002 |
Finding site | Macula lutea structure 82859000 |
Associated morphology | Developmental failure of fusion 371520008 |
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 Coloboma of macula with brachydactyly type B syndrome 717785002 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Coloboma of macula with brachydactyly type B syndrome 717785002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Brachydactyly syndrome type B 389168002 Coloboma of macula with brachydactyly type B syndrome 717785002 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 Coloboma of macula with brachydactyly type B syndrome 717785002 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Retina finding 399858007 Macula finding 247143009 Macular disorder 312999006 Congenital anomaly of macula 4041005 Congenital coloboma of macula lutea 737579002 Coloboma of macula with brachydactyly type B syndrome 717785002 |
ancestors | sorted most to least specific
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cpt crosswalks |
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