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8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

1631 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Disorder of bone false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly 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 true Inferred relationship Some
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system 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 Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology Developmental abnormality 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 Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pectus carinatum Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital stricture of osseous meatus of middle ear Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital bony fusion of phalanges Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of caudal vertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Accessory carpal bones Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital atresia of osseous meatus of middle ear Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of rib Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Defect of vertebral segmentation Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of organ of Corti Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital malformation of sternum Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of thoracic vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of hyoid bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of lacrimal bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Accessory ossification centre Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of supraoccipital bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of vomer Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of premaxilla Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of sternebra Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spinal meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Cervical spinal hydromeningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly lesser toes Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Phalanx of supernumerary digit of hand Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Phalanx of supernumerary digit of foot Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Genu recurvatum and long leg bone bowing Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Partially impacted tooth in bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Buccal bifurcation cyst Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Delta phalanx of finger Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Langer-Giedion syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of phalanges of hand Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of tibia AND/OR fibula Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Weissenbacher-Zweymuller syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Oculoskeletal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormality of skull and face bones Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hemivertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Fibrous dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Ectopic bone tissue, congenital Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Miller syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Larsen syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lack of ossification of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Incomplete ossification of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital pseudoarthrosis of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Closed spina bifida with Arnold-Chiari malformation Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Juvenile hyaline fibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Giant cell fibroblastoma of skin Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Aggressive infantile fibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Juvenile elastofibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly of fingers - first web Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital thickening of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital ankylosis of elbow Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Conjoined twins causing disproportion Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Failure of differentiation of bones of forearm Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Duplication of lower limb bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Bifid patella Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital leg bone bowing Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital laryngomalacia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of spine Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital synostosis of lower limb bones Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Ectromelia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Transitional lumbosacral vertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital varus ankle Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital valgus ankle Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Crane Heise syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Nathalie syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of femur Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly type A1 Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Mammary digital nail syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Aniridia and absent patella syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Juberg Hayward syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Qazi Markouizos syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Klippel Trenaunay syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital sacral meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of patella Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Angio-osteohypertrophic syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Czeizel Losonci syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Van den Bosch syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of bone of shoulder girdle Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Myelomeningocoele and hydrocephalus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Hypoplasia of sacrum Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Aplasia of patella Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Failure of differentiation of bones of forearm Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital leg bone bowing Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Simple syndactyly of toes second to fourth web Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly of toes second to fourth web Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Infantile myofibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Cerebrofacioarticular syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary phalanx Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Velofacioskeletal syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
White forelock with malformations syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Keipert syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Occult spinal dysraphism sequence Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Angioosteohypotrophic syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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