Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000
SNOMED CT code
SNOMED code | 782914000 |
---|---|
name | Brachydactyly, short stature, retinitis pigmentosa syndrome |
status | active |
date introduced | 2019-07-31 |
fully specified name(s) | Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) |
synonyms | Brachydactyly, short stature, retinitis pigmentosa syndrome |
attributes - group2 | |
Occurrence | Congenital 255399007 |
Pathological process | Pathological developmental process 308490002 |
Finding site | Bone structure 272673000 |
Associated morphology | Dysplasia 25723000 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Digit structure 82680008 |
Associated morphology | Abnormally short growth 11182007 |
Pathological process | Pathological developmental process 308490002 |
attributes - group3 | |
Finding site | Retinal structure 5665001 |
Associated morphology | Degenerative abnormality 107669003 |
attributes - group4 | |
Interprets | Height / growth measure 271603002 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Dysostosis 109420003 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Deformity of limb 445144002 Longitudinal deficiency of part of limb 716638009 Brachydactyly 43476002 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Degeneration of retina 95695004 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 |
ancestors | sorted most to least specific
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cpt crosswalks |
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