Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001
SNOMED CT code
| SNOMED code | 1187277001 |
|---|---|
| name | Short stature, brachydactyly, obesity, global developmental delay syndrome |
| status | active |
| date introduced | 2022-01-31 |
| fully specified name(s) | Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder) |
| synonyms |
|
| attributes - group4 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Entire digit of hand 283992002 |
| Associated morphology | Abnormally short growth 11182007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| 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 | Bone structure of distal phalanx of hand 312768004 |
| Associated morphology | Hypoplasia 55199003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| 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 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Acromesomelic dysplasia syndrome 279082008 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Finding of hand region 116311003 Finding of bone in hand 299043001 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Finding of musculoskeletal structure of digit of hand 299055007 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Finding of hand region 116311003 Finding of digit of hand 313132009 Brachydactyly of hand 310798000 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Disorder of upper limb 118947000 Congenital anomaly of upper limb 66510004 Hypoplasia of upper limb 253929007 Congenital hypoplasia of part of upper limb 770543003 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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