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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
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
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
spectre ostéolyse multicentrique-nodulose-arthropathie est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dentin dysplasia with sclerotic bone syndrome est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Ehlers-Danlos syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Incomplete ossification of bone (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
achondrogenèse (trouble) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of ossicles of ear est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital negative ulnar variant of wrist (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of vertebra est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital positive ulnar variant of wrist (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital pseudoarthrosis of limb (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Hyperphosphatasemia with bone disease est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dysostosis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Pyknoachondrogenesis (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic dysplasia of Patterson Lowry type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Carpal-tarsal osteolysis with nephropathy est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
McCune Albright syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Multiple congenital exostosis est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Pachydermoperiostosis - familial est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Patella dysplasia est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloepiphyseal dysplasia congenita est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplasia with defective mineralization est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteodysplastic primordial dwarfism est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Omodysplasia (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylodysplastic group est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteopathia striata est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Metatropic dysplasia (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Chondrodysplasia punctata est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Pseudochondroplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Enchondromatosis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplasias with significant membranous bone involvement est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dysostosis multiplex group est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Achondrogenesis, type IB est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Winchester syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Pyle metaphyseal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Defects of tubular bones and spine (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Multiple synostosis syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Short rib dysplasia group (with or without polydactyly) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Cherubism with gingival fibromatosis (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
dysplasie phalango-épiphysaire en ailes d'anges est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Acromesomelic dysplasia syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloperipheral dysplasia (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Beals auriculo-osteodysplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Torg type osteolysis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteocraniostenosis (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplastic cortical hyperostosis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplasia with decreased bone density est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Weill-Marchesani syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Hajdu-Cheney syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Chondrodysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Familial expansile osteolysis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Bent bone dysplasia group est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Craniodiaphyseal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Heide syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
mélorhéostose (trouble) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Chondroectodermal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Metaphyseal chondrodysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest-Stickler dysplasia group est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Frank-Ter Haar syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Leri's pleonosteosis syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Diaphyseal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de céphalopolysyndactylie de Greig (trouble) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Idiopathic multicentric osteolysis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis - Stanescu type est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
dysplasie cranio-métaphysaire (trouble) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteopoikilosis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Ballard syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
achondrogenèse type 1A (trouble) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Dysosteosclerosis est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Grant syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Epiphyseal dysplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Hypochondroplasia est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Short stature Brussels type (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some

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