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8447006: Congenital anomaly of skeletal bone (disorder)

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

Descriptions:

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

1632 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 Existential restriction modifier
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Is a Disorder of bone false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Familial expansile osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Bent bone dysplasia group Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Craniodiaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Genochondromatosis type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Melorheostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Chondroectodermal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Holoprosencephaly with caudal dysgenesis syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Lipodystrophy, intellectual disability, deafness syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Kniest-Stickler dysplasia group Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Frank-Ter Haar syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Leri's pleonosteosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Multicentric carpotarsal osteolysis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Diaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Greig cephalopolysyndactyly syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Idiopathic multicentric osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteosclerosis - Stanescu type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Craniometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteopoikilosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Ballard syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Achondrogenesis, type IA Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dysosteosclerosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Grant syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Epiphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hypochondroplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Short stature Brussels type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia with joint laxity Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dyschondrosteosis and nephritis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Mesomelic dysplasia Kantaputra type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Coxoauricular syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Atelosteogenesis type 1 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Boomerang dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Larsen-like osseous dysplasia, short stature syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Atelosteogenesis type 3 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteogenesis imperfecta Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Desbuquois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Nievergelt's syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Lethal Larsen-like syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Cleidorhizomelic syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Leri-Weill dyschondrosteosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Robinow syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Langer mesomelic dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Pseudodiastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Short stature homeobox related short stature Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Diastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Rhizomelic syndrome Urbach type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hypoplastic chondrodystrophy Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Autosomal recessive brachyolmia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Schmidt type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hall Riggs syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Golden type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia A4 type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Autosomal recessive spondylometaphyseal dysplasia Megarbane type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia - Sutcliffe type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Czarny Ratajczak type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Axial spondylometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Otopalatodigital syndrome spectrum disorder Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital spondylolisthesis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Fibrous dysplasia of bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Atelosteogenesis type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Brachyrachia (short spine dysplasia) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Francois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Neonatal osteosclerotic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Carpotarsal osteochondromatosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hydromyelocele Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Seckel syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Cutis laxa, x-linked Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Lipomyelomeningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital coronal cleft of vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Lethal Kniest-like syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Kniest dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Kniest-Stickler dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital anomaly of patella Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Brachydactyly type D Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Brachydactyly type A3 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Pygopagus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital dysplasia of bone caused by drug Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital sagittal cleft of vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Multiple congenital defects of vertebral segmentation Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Mesomelic dysplasia of upper limb Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteoglophonic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Supernumerary bone of foot Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Ghosal hematodiaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital deformity of bone of forearm Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier

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