B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 1251499005
SNOMED CT code
| SNOMED code | 1251499005 |
|---|---|
| name | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) |
| synonyms |
|
| attributes - group5 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skin structure 39937001 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Connective tissue structure 21793004 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Finding site | Musculoskeletal structure of spine 289959001 |
| Associated morphology | Lateral abnormal curvature 31739005 |
| attributes - group6 | |
| Finding site | Musculoskeletal structure of spine 289959001 |
| Associated morphology | Anteroposterior abnormal curvature 61051007 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Disorder of connective tissue 105969002 Musculoskeletal and connective tissue disorder 312225001 Ehlers-Danlos syndrome 398114001 Spondylodysplastic Ehlers-Danlos syndrome 1251488008 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 1251499005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 1251499005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Scoliosis deformity of spine 298382003 Kyphoscoliosis deformity of spine 405773007 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 1251499005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 1251499005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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