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123572006: Congenital anomaly of rib (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
192061011 Congenital anomaly of rib en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
472380011 Congenital malformation of ribs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
726529019 Congenital anomaly of rib (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4767061000241114 anomalie congénitale de la cote fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

51 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of rib Is a Congenital anomaly of thoracic cage true Inferred relationship Some
Congenital anomaly of rib Occurrence Congenital false Inferred relationship Some
Congenital anomaly of rib Finding site Bone structure of rib true Inferred relationship Some 1
Congenital anomaly of rib Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of rib Is a Congenital deformity of chest wall false Inferred relationship Some
Congenital anomaly of rib Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Congenital anomaly of rib Finding site Bone structure of rib false Inferred relationship Some 1
Congenital anomaly of rib Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of rib Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of rib Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of rib Is a Congenital anomaly of body wall true Inferred relationship Some
Congenital anomaly of rib Is a Congenital anomaly of thorax false Inferred relationship Some
Congenital anomaly of rib Finding site Bone structure of rib false Inferred relationship Some 2
Congenital anomaly of rib Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of rib Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of rib Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of rib Is a Congenital malformation of bone of thorax (disorder) true Inferred relationship Some
Congenital anomaly of rib Is a Finding of rib structure (finding) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Accessory rib Is a True Congenital anomaly of rib Inferred relationship Some
Short rib-polydactyly syndrome, non-Majewski type Is a False Congenital anomaly of rib Inferred relationship Some
Congenital fusion of ribs Is a True Congenital anomaly of rib Inferred relationship Some
Congenital absence of rib Is a True Congenital anomaly of rib Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a False Congenital anomaly of rib Inferred relationship Some
Congenital abnormal shape of rib Is a True Congenital anomaly of rib Inferred relationship Some
Congenital anomaly of rib cartilage Is a False Congenital anomaly of rib Inferred relationship Some
Congenital branched rib Is a True Congenital anomaly of rib Inferred relationship Some
Congenital focal enlargement of rib Is a True Congenital anomaly of rib Inferred relationship Some
Lack of ossification of rib Is a True Congenital anomaly of rib Inferred relationship Some
Congenital hypoplasia of rib Is a True Congenital anomaly of rib Inferred relationship Some
Congenital malposition of rib Is a True Congenital anomaly of rib Inferred relationship Some
Congenital misalignment of rib Is a True Congenital anomaly of rib Inferred relationship Some
Congenital thickening of rib Is a True Congenital anomaly of rib Inferred relationship Some
Discontinuous rib Is a True Congenital anomaly of rib Inferred relationship Some
Incomplete ossification of rib Is a True Congenital anomaly of rib Inferred relationship Some
Intercostal rib Is a False Congenital anomaly of rib Inferred relationship Some
Other congenital anomalies of ribs Is a False Congenital anomaly of rib Inferred relationship Some
[X]Other congenital malformations of ribs Is a False Congenital anomaly of rib Inferred relationship Some
Congenital branched rib cartilage Is a False Congenital anomaly of rib Inferred relationship Some
Short rib dysplasia Is a True Congenital anomaly of rib Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a False Congenital anomaly of rib Inferred relationship Some
Cerebro-costo-mandibular syndrome Is a True Congenital anomaly of rib Inferred relationship Some
Congenital bent rib Is a False Congenital anomaly of rib Inferred relationship Some
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. Is a True Congenital anomaly of rib Inferred relationship Some
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. Is a True Congenital anomaly of rib Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a True Congenital anomaly of rib Inferred relationship Some
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Is a False Congenital anomaly of rib Inferred relationship Some
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Is a True Congenital anomaly of rib Inferred relationship Some
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Is a False Congenital anomaly of rib Inferred relationship Some
Congenital pectus carinatum Is a False Congenital anomaly of rib Inferred relationship Some
Congenital pectus excavatum (disorder) Is a False Congenital anomaly of rib Inferred relationship Some
A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987. Is a True Congenital anomaly of rib Inferred relationship Some
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Is a True Congenital anomaly of rib Inferred relationship Some
Jarcho-Levin syndrome Is a True Congenital anomaly of rib Inferred relationship Some
An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. Is a True Congenital anomaly of rib Inferred relationship Some
Autosomal recessive Robinow syndrome Is a True Congenital anomaly of rib Inferred relationship Some
Melorheostosis of rib Is a True Congenital anomaly of rib Inferred relationship Some

This concept is not in any reference sets

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