Skeletal dysplasia with epilepsy and short stature syndrome 715428003
SNOMED CT code
| SNOMED code | 715428003 |
|---|---|
| name | Skeletal dysplasia with epilepsy and short stature syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| attributes - group2 | |
| Interprets | Height / growth measure 271603002 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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