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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
Congenital bony fusion of phalanges (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of caudal vertebra est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Accessory carpal bones est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital atresia of osseous meatus of middle ear est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of rib est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Defect of vertebral segmentation est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of organ of Corti est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital malformation of sternum est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of thoracic vertebra est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of hyoid bone est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of lacrimal bone est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Accessory ossification center est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of supraoccipital bone est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of vomer est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of premaxilla est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of sternebra est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Spinal meningocele est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Cervical spinal hydromeningocele est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly lesser toes est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Phalanx of supernumerary digit of hand (body structure) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Phalanx of supernumerary digit of foot (body structure) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Genu recurvatum and long leg bone bowing est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Partially impacted tooth in bone est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Buccal bifurcation cyst est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Delta phalanx of finger est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Langer-Giedion syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
anomalie longitudinale des phalanges d'une main est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of tibia AND/OR fibula est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tympanic anulus est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Weissenbacher-Zweymuller syndrome est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Oculoskeletal dysplasia (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
anomalie congénitale des os du crâne et du visage est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of clavicle est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hemivertebra est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Fibrous dysplasia (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Ectopic bone tissue, congenital est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Miller syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Larsen syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Lack of ossification of clavicle est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Incomplete ossification of clavicle est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital pseudoarthrosis of clavicle (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Closed spina bifida with Arnold-Chiari malformation est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Giant cell fibroblastoma of skin (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Aggressive infantile fibromatosis est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Juvenile elastofibromatosis est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly of fingers - first web est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital thickening of clavicle est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital ankylosis of elbow est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Conjoined twins causing disproportion est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Failure of differentiation of bones of forearm est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Duplication of lower limb bone est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Bifid patella est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
incurvation congénitale des os de la jambe est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital laryngomalacia est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of spine est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital synostosis of lower limb bones est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
ectromélie (trouble) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Transitional lumbosacral vertebra (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital varus ankle est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital valgus ankle est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Crane Heise syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
anomalie longitudinale du fémur est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type A1 (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Aniridia and absent patella syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Juberg Hayward syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Klippel Trenaunay syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital sacral meningocele est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of patella (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Angio-osteohypertrophic syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Van den Bosch syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of bone of shoulder girdle (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Myelomeningocele co-occurrent with hydrocephalus (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Hypoplasia of sacrum (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Aplasia of patella est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Failure of differentiation of bones of forearm est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
incurvation congénitale des os de la jambe est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Simple syndactyly of toes second to fourth web est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly of toes second to fourth web est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
myofibromatose infantile est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Hyperphalangy est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Velofacioskeletal syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Keipert syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Verloove Vanhorick Brubakk syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Occult spinal dysraphism sequence est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Angioosteohypotrophic syndrome est un(e) (attribut) True Congenital anomaly of skeletal bone Inferred relationship Some
Lack of ossification of auditory ossicles est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal bone Inferred relationship Some

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