Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000
SNOMED CT code
| SNOMED code | 1286834000 |
|---|---|
| name | Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type |
| status | active |
| date introduced | 2023-07-31 |
| fully specified name(s) | Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) |
| synonyms |
|
| attributes - group6 | |
| Clinical course | Progressive 255314001 |
| attributes - group7 | |
| Associated with | Skeletal dysplasia 105986008 |
| attributes - group4 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group5 | |
| Interprets | Range of joint movement 364564000 |
| Has interpretation | Increased 35105006 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Joint structure of multiple body sites 773190007 |
| Associated morphology | Dislocation 87642003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Associated morphology | Lateral abnormal curvature 31739005 |
| Finding site | Musculoskeletal structure of spine 289959001 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Scoliosis deformity of spine 298382003 Scoliosis in skeletal dysplasia 203661003 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Congenital anomaly of bone and joint 237513002 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Metaphyseal chondrodysplasia 28681006 Spondyloepimetaphyseal disorder 254062008 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of movement 298325004 Finding of joint movement 298179002 Finding of range of joint movement 298180004 Range of joint movement increased 298181000 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Joint laxity 298203008 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of musculoskeletal system 128237006 Chronic arthropathy 38850007 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Arthropathy 399269003 Arthropathy associated with another disorder 35524003 Polyarthropathy associated with another disorder 51891008 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of movement 298325004 Movement disorder 60342002 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Arthropathy 399269003 Dislocation of joint 108367008 Congenital dislocation of joint 890410005 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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