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8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
14942016 Congenital anomaly of skeletal bone en Synonym Active Case insensitive SNOMED CT core
14943014 Congenital anomaly of skeletal bone, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
14944015 Congenital skeletal anomaly, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym Active Case insensitive SNOMED CT core
14946018 Anomaly of skeletal development en Synonym Active Case insensitive SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym Active Case insensitive SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1631 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Disorder of bone false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Some
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Some
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology Developmental abnormality false Inferred relationship Some 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Short stature Brussels type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloepimetaphyseal dysplasia with joint laxity Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia Kantaputra type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Coxoauricular syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 1 Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Boomerang dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Larsen-like osseous dysplasia, short stature syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 3 Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteogenesis imperfecta Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Desbuquois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Nievergelt's syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lethal Larsen-like syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Cleidorhizomelic syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Leri-Weill dyschondrosteosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Robinow syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Langer mesomelic dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Pseudodiastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Short stature homeobox related short stature Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Diastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic syndrome Urbach type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hypoplastic chondrodystrophy Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal recessive brachyolmia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hall Riggs syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia Golden type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia A4 type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia - Sutcliffe type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia Czarny Ratajczak type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Axial spondylometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Otopalatodigital syndrome spectrum disorder Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spondylolisthesis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Fibrous dysplasia of bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachyrachia (short spine dysplasia) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Francois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Neonatal osteosclerotic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Carpotarsal osteochondromatosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hydromyelocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Seckel syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Cutis laxa, x-linked Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lipomyelomeningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital coronal cleft of vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lethal Kniest-like syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest-Stickler dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of patella Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type D Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type A3 Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Pygopagus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dysplasia of bone caused by drug Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Butterfly vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Multiple congenital defects of vertebral segmentation Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia of upper limb Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteoglophonic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary bone of foot Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Diaphyseal dysplasia with anaemia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital deformity of bone of forearm Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone Due to True Congenital anomaly of skeletal bone Inferred relationship Some 2
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of scapula Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of humerus Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of radius Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of ulna Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of femur Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of fibula Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tibia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tarsal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of metatarsal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of carpal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of metacarpal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of metatarsal bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of skeletal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Syndactyly of toes with fusion of bones Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Klippel-Feil sequence Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of sacroiliac joint Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spinal meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spina bifida Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Persistent human tail Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal shape of auditory ossicles Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital thread-like tail Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Schistosomus reflexus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of humerus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osteopetrosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital pes planus Is a False Congenital anomaly of skeletal bone Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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