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8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1621 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal bone est un(e) (attribut) Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of skeletal bone morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone est un(e) (attribut) affection congénitale du tissu conjonctif false Inferred relationship Some
Congenital anomaly of skeletal bone est un(e) (attribut) Disorder of bone development (disorder) true Inferred relationship Some
Congenital anomaly of skeletal bone est un(e) (attribut) Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital anomaly of skeletal bone localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Congenital anomaly of skeletal bone morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone survenue (attribut) congénital false Inferred relationship Some 2
Congenital anomaly of skeletal bone morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Congenital anomaly of skeletal bone localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2
Congenital anomaly of skeletal bone survenue (attribut) congénital true Inferred relationship Some 1
Congenital anomaly of skeletal bone localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Congenital anomaly of skeletal bone survenue (attribut) congénital false Inferred relationship Some
Congenital anomaly of skeletal bone localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Short stature Brussels type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Defects of the tubular (and flat) bones and/or axial skeleton est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloepimetaphyseal dysplasia with joint laxity est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dyschondrosteosis and nephritis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Coxoauricular syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 1 (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
dysplasie en boomerang est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Larsen-like osseous dysplasia, short stature syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 3 (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteogenesis imperfecta est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Desbuquois syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Nievergelt's syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Cleidorhizomelic syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Leri-Weill dyschondrosteosis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Robinow syndrome est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Langer mesomelic dysplasia syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Pseudodiastrophic dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
SHOX-related short stature est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Diastrophic dysplasia (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic syndrome Urbach type est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Hypoplastic chondrodystrophy est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal recessive brachyolmia (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia A4 type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia - Sutcliffe type est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Otopalatodigital syndrome spectrum disorder est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
spondylolisthésis congénital est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Fibrous dysplasia of bone est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 2 est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Brachyrachia (short spine dysplasia) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Saldino-Mainzer dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de François est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
ostéosclérose néonatale est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
hydromyélocèle (trouble) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
nanisme à tête d'oiseau est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Cutis laxa, x-linked (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Lipomyelomeningocele est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital coronal cleft of vertebra (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Lethal Kniest-like syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
dysplasie de Kniest (trouble) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest-Stickler dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of patella (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type D (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type A3 (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Pygopagus est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dysplasia of bone caused by drug est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital sagittal cleft of vertebra (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Multiple congenital defects of vertebral segmentation est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteoglophonic dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary bone of foot (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Ghosal hematodiaphyseal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital deformity of bone of forearm (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) Due to True Congenital anomaly of skeletal bone Inferred relationship Some 2
Short stature, advanced bone age, early-onset osteoarthritis syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of scapula est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of humerus est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of radius est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of ulna (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of femur est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of fibula est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tibia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tarsal bone est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of metatarsal bone est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of carpal bone est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of metacarpal bone est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of metatarsal bone est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of skeletal bone est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Syndactyly of toes with fusion of bones est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of ossicles of ear (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Klippel-Feil sequence est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of sacroiliac joint est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spinal meningocele est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Spina bifida est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Persistent human tail est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal shape of auditory ossicles est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital thread-like tail est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Schistosomus reflexus (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of humerus est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Osteopetrosis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
pied plat congénital est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Xiphopagus est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some

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