Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009
SNOMED CT code
| SNOMED code | 763066009 |
|---|---|
| name | Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome |
| status | active |
| date introduced | 2018-07-31 |
| fully specified name(s) | Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) |
| synonyms |
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| attributes - group2 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Upper limb structure 53120007 |
| attributes - group3 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Anal structure 53505006 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Narrowed structure 25659002 |
| Finding site | Structure of palpebral fissure 595000 |
| attributes - group1 | |
| Finding site | Structure of atrioventricular septum 14692001 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Congenital septal defect 396351009 |
| Occurrence | Congenital 255399007 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Digestive system finding 386617003 Gastrointestinal tract finding 386618008 Anal finding 249628000 Disorder of anus 32110003 Congenital anomaly of anus 11194003 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Structural disorder of heart 128599005 Cardiac septal defects 253273004 Congenital septal defect of heart 59494005 Congenital atrioventricular septal defect 1237074000 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Digestive system hereditary disorder 363080007 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 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 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Disorder of upper limb 118947000 Congenital anomaly of upper limb 66510004 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Eyelid finding 246812007 Palpebral fissure finding 386656009 Narrowing of palpebral fissure 370116005 Congenital blepharophimosis 93040009 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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