Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001
SNOMED CT code
| SNOMED code | 733117001 |
|---|---|
| name | Thumb stiffness, brachydactyly, intellectual disability syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Abnormally short growth 11182007 |
| Finding site | Digit structure 82680008 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Ankylosis 36504009 |
| Occurrence | Congenital 255399007 |
| Finding site | Thumb joint structure 125684003 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Finding of joint of thumb 299131004 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 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 Congenital malformation of thumb 394910004 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 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 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 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 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Disorder of upper limb 118947000 Ankylosis of upper limb joint 302154007 Ankylosis of joint of hand 56923001 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Arthropathy 399269003 Congenital anomaly of joint 95463009 Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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