14q22q23 microdeletion syndrome 771439009
SNOMED CT code
| SNOMED code | 771439009 |
|---|---|
| name | 14q22q23 microdeletion syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | 14q22q23 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Finding site | Visual structure 49549006 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial monosomy 371169004 |
| Finding site | Chromosome pair 14 66933007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Limb structure 66019005 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group4 | |
| Associated morphology | Partial monosomy 371169004 |
| Occurrence | Congenital 255399007 |
| Finding site | Long arm of chromosome 312242007 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 14 27183007 Deletion of part of chromosome 14 726385006 Partial deletion of long arm of chromosome 14 1153430004 14q22q23 microdeletion syndrome 771439009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 14q22q23 microdeletion syndrome 771439009 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 14q22q23 microdeletion syndrome 771439009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 14q22q23 microdeletion syndrome 771439009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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