CPT Changes
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Chondrodysplasia punctata 278715001 SNOMED CT code SNOMED code 278715001 name Chondrodysplasia punctata status active date introduced 2002-01-31 fully specified name(s) Chondrodysplasia punctata (stippled epiphyses) group (disorder) synonyms Chondrodysplasia punctata Chondrodysplasia punctata (stippled epiphyses) group attributes - group1 Occurrence Congenital 255399007 Pathological process Pathological developmental process 308490002 Finding site Bone structure 272673000 Associated morphology Dysplasia 25723000 parents children Brachytelephalangic chondrodysplasia punctata 778067002 Chondrodysplasia punctata 205486004 removed: 2011-01-31 Chondrodysplasia punctata due to maternal autoimmune disease 890437007 Chondrodysplasia punctata Toriello type 715631005 Chondrodysplasia punctata, Conradi-Hünermann type 398719004 Chondrodysplasia punctata, MT type 254083002 Chondrodysplasia punctata, X-linked dominant type 398958000 Chondrodysplasia punctata, X-linked recessive type 254082007 Hyperphosphatasia-osteoectasia syndrome 76556008 Lissencephaly type 3 metacarpal bone dysplasia syndrome 718720007 Rhizomelic chondrodysplasia punctata syndrome 56692003 X-linked dominant chondrodysplasia punctata of Happle 403778001 removed: 2021-09-30 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 Chondrodysplasia punctata 278715001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Chondrodysplasia punctata 278715001 ancestors sorted most to least specific
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