Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006
SNOMED CT code
| SNOMED code | 782913006 | ||
|---|---|---|---|
| name | Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | ||
| status | active | ||
| date introduced | 2019-07-31 | ||
| fully specified name(s) | Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder) | ||
| synonyms | Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | ||
| attributes - group3 | |||
| Occurrence | Congenital 255399007 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Finding site | Face structure 89545001 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| attributes - group2 | |||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Bowing deformity 34058006 | ||
| Finding site | Bone structure of radius and/or ulna 299701004 | ||
| attributes - group1 | |||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Dysplasia 25723000 | ||
| Finding site | Bone structure 272673000 | ||
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of extremity 128605003 Disorder of upper extremity 118947000 Disorder of forearm 128132009 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Deformity of bone 271084006 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Bowing deformity of bone 298360005 Bowing of upper limb 449713008 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of extremity 128605003 Congenital anomaly of limb 60475009 Congenital anomaly of upper limb 66510004 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Spondylometaphyseal dysplasia 784006008 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006 | ||
| ancestors | sorted most to least specific
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| cpt crosswalks |
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