Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009
SNOMED CT code
| SNOMED code | 765761009 |
|---|---|
| name | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
| status | active |
| date introduced | 2018-07-31 |
| fully specified name(s) | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
| synonyms |
|
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Bone structure of radius 62413002 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Cardiovascular structure 113257007 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Digit structure 82680008 |
| Associated morphology | Abnormally short growth 11182007 |
| attributes - group7 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group8 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Length of radius 1263482000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group9 | |
| Interprets | Length of ulna 439356002 |
| Has interpretation | Below reference range 281300000 |
| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure of ulna 23416004 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Finding of bone of upper limb 298756009 Congenital anomaly of radius 123559005 Mesomelic dysplasia of upper limb 1010609002 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Deformity of limb 445144002 Longitudinal deficiency of part of limb 716638009 Brachydactyly 43476002 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital anomaly of cardiovascular system 9904008 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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