MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005
SNOMED CT code
| SNOMED code | 1251451005 |
|---|---|
| name | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) |
| synonyms |
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| attributes - group4 | |
| Interprets | Range of joint movement 364564000 |
| Has interpretation | Decreased 1250004 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Structure of joint region 785818007 |
| Associated morphology | Contracture 57048009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Musculoskeletal structure of digit 310791006 |
| Associated morphology | Fixed flexion deformity 788600005 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Arthrogryposis 111246005 Arthrogryposis multiplex congenita 205402004 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005 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 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Inherited arthrogryposis 28204005 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Deformity of limb 445144002 Camptodactyly 29271008 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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