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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
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
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
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

2148 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 Some
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
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale 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 (disorder) 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 anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement 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 Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Supernumerary forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary tarsal bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dislocation of radial head 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
Genu recurvatum and long leg bone bowing Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Syndactyly of toes with fusion of bones (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Klippel-Feil sequence Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of sacroiliac joint Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spinal meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spina bifida Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Persistent human tail Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal shape of auditory ossicles Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital thread-like tail Is a False Congenital anomaly of skeletal bone Inferred relationship Some
schistosomus reflexus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of spine Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital laryngomalacia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of cricoid cartilage Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of thyroid cartilage Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal shape of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of phalanges of foot Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloschisis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of face bones Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital fusion of spine Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spinal meningocele Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spina bifida Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Platyspondylia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital lumbosacral stenosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Persistent human tail Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of cervical vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of fetal head bones Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of lumbar vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of sacral vertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital scoliosis due to bony malformation Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital kyphoscoliosis (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of bone and joint Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Pectus carinatum (disorder) 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 (disorder) 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 False 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 False 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 center 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
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 False 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
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 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 (disorder) 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
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
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
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 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 very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. 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
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
An exceedingly rare, autosomal recessive immune disease characterized 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 Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. Is a False Congenital anomaly of skeletal bone Inferred relationship Some

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