Spondyloepimetaphyseal dysplasia Genevieve type 773303005
SNOMED CT code
| SNOMED code | 773303005 |
|---|---|
| name | Spondyloepimetaphyseal dysplasia Genevieve type |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group3 | |
| Interprets | Height / growth measure 271603002 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| 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 Spondyloepimetaphyseal dysplasia Genevieve type 773303005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Spondyloepimetaphyseal dysplasia Genevieve type 773303005 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 Genevieve type 773303005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spondyloepimetaphyseal dysplasia Genevieve type 773303005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Spondyloepimetaphyseal dysplasia Genevieve type 773303005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Spondyloepimetaphyseal dysplasia Genevieve type 773303005 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 Genevieve type 773303005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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