Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005
SNOMED CT code
SNOMED code | 783562005 |
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name | Syndactyly, nystagmus syndrome due to 2q31.1 microduplication |
status | active |
date introduced | 2019-07-31 |
fully specified name(s) | Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder) |
synonyms |
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attributes - group2 | |
Associated morphology | Congenital abnormal fusion 37764001 |
Finding site | Digit structure 82680008 |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Chromosome pair 2 113354003 |
Associated morphology | Partial trisomy 133849008 |
attributes - group3 | |
Occurrence | Congenital 255399007 |
Finding site | Eye region structure 371398005 |
attributes - group4 | |
Interprets | Ocular motility observable 31763002 |
parents | |
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of eye region 371409005 Pendular nystagmus 35743001 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Syndactyly 373413006 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005 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 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Trisomy and partial trisomy of autosome 270521004 Partial trisomy of chromosome 2 726340005 2q partial trisomy syndrome 5982001 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital nystagmus 64635004 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005 |
ancestors | sorted most to least specific
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cpt crosswalks |
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