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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
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
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active 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 Only initial character 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 Only initial character 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 Only initial character 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
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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

1821 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 (core metadata concept)
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Supernumerary forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary tarsal bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dislocation of radial head (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osseous syndactyly lesser toes Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Genu recurvatum and long leg bone bowing (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly of toes with fusion of bones (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fusion of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil sequence (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fusion of sacroiliac joint Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spinal meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Persistent human tail Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of auditory ossicles (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thread-like tail Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
schistosomus reflexus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of spine Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital laryngomalacia (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of cricoid cartilage Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of thyroid cartilage Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of phalanges of foot Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloschisis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fusion of spine Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spinal meningocele Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Platyspondylia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lumbosacral stenosis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Myelocele Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Persistent human tail Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of cervical vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of fetal head bones Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lumbar vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of sacral vertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital scoliosis due to bony malformation Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital kyphoscoliosis (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of bone and joint Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Pectus carinatum Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stricture of osseous meatus of middle ear Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bony fusion of phalanges (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of caudal vertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Accessory carpal bones Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of osseous meatus of middle ear Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of rib Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Defect of vertebral segmentation Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of organ of Corti Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of sternum (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of thoracic vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hyoid bone Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lacrimal bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Accessory ossification center (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of supraoccipital bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of vomer (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of premaxilla Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of sternebra Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spinal meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Cervical spinal hydromeningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Delta phalanx of finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Langer-Giedion syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of phalanges of hand (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of tibia AND/OR fibula Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Weissenbacher-Zweymuller syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hemivertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic bone tissue, congenital Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Miller syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Larsen syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of clavicle (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pseudoarthrosis of clavicle (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Closed spina bifida with Arnold-Chiari malformation (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osseous syndactyly of fingers - first web Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thickening of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ankylosis of elbow Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Failure of differentiation of bones of forearm (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of lower limb bone Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Bifid patella Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leg bone bowing (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital laryngomalacia (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fusion of spine Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital synostosis of lower limb bones (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Ectromelia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine. Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital varus ankle Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital valgus ankle Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Nathalie syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of femur (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type A1 Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Mammary digital nail syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)

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