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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
14943014 Congenital anomaly of skeletal bone, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
14944015 Congenital skeletal anomaly, NOS en Synonym (core metadata concept) Inactive Only initial character 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
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name 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
11451001000113 Angeborene Skelettanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11461001000110 Angeborene Knochenanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4416831000241116 anomalie congénitale d'un os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1641 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
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
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale 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 (disorder) 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 anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement 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 Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Chondrodysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Familial expansile osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Bent bone dysplasia group Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Craniodiaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Heide syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Genochondromatosis type 2 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Melorheostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Chondroectodermal dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Metaphyseal chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest-Stickler dysplasia group Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Frank-Ter Haar syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Leri's pleonosteosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Diaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Greig cephalopolysyndactyly syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Idiopathic multicentric osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis - Stanescu type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Craniometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteopoikilosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Ballard syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Achondrogenesis, type IA Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysosteosclerosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Grant syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Epiphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hypochondroplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Short stature Brussels type (disorder) 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 (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Coxoauricular syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 1 (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 3 (disorder) 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 False Congenital anomaly of skeletal bone Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Cleidorhizomelic syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Leri-Weill dyschondrosteosis Is a False 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 False Congenital anomaly of skeletal bone Inferred relationship Some
Pseudodiastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
SHOX-related short stature Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a False 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 False 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 (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hall Riggs syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia A4 type (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Is a False 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) Is a False 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
hydromyélocèle 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type D (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type A3 (disorder) 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
Congenital sagittal cleft of vertebra (disorder) 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 (disorder) Is a False 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Ghosal hematodiaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital deformity of bone of forearm (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some

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