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74877002: Congenital anomaly of spine (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
124356012 Congenital anomaly of spine en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
124360010 Congenital anomaly of vertebral column en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
124361014 Congenital spine malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502840010 Congenital malformation of spine en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
815424018 Congenital anomaly of spine (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
950941000195119 anomalia congenita della colonna vertebrale it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4634751000241115 anomalie congénitale du rachis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

323 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of spine Is a Disorder of spinal column false Inferred relationship Some
Congenital anomaly of spine Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Congenital anomaly of spine Occurrence Congenital false Inferred relationship Some
Congenital anomaly of spine Finding site Bone structure of spine false Inferred relationship Some 1
Congenital anomaly of spine Is a Disorder of spine false Inferred relationship Some
Congenital anomaly of spine Is a Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of spine Is a Disorder of trunk (disorder) false Inferred relationship Some
Congenital anomaly of spine Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of spine Is a Congenital anomaly of trunk false Inferred relationship Some
Congenital anomaly of spine Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Congenital anomaly of spine Occurrence Congenital false Inferred relationship Some
Congenital anomaly of spine Is a Vertebral column finding false Inferred relationship Some
Congenital anomaly of spine Is a Finding of bone of spine false Inferred relationship Some
Congenital anomaly of spine Is a Congenital disease false Inferred relationship Some
Congenital anomaly of spine Finding site Spinal structure false Inferred relationship Some 1
Congenital anomaly of spine Is a Congenital anomaly of back false Inferred relationship Some
Congenital anomaly of spine Finding site Spinal structure false Inferred relationship Some 1
Congenital anomaly of spine Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of spine Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Congenital anomaly of spine Is a Disorder of vertebral column (disorder) false Inferred relationship Some
Congenital anomaly of spine Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of spine Finding site Structure of vertebral column (body structure) false Inferred relationship Some 2
Congenital anomaly of spine Is a Congenital anomaly of vertebral region of back true Inferred relationship Some
Congenital anomaly of spine Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of spine Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital anomaly of spine Finding site Structure of vertebral column (body structure) false Inferred relationship Some 1
Congenital anomaly of spine Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of spine Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of spine Finding site Structure of vertebral column and/or spinal cord (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Is a True Congenital anomaly of spine Inferred relationship Some
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Is a False Congenital anomaly of spine Inferred relationship Some
Incomplete ossification of vertebra (disorder) Is a True Congenital anomaly of spine Inferred relationship Some
Osteomesopycnosis Is a False Congenital anomaly of spine Inferred relationship Some
Brachyrachia (short spine dysplasia) Is a False Congenital anomaly of spine Inferred relationship Some
Jarcho-Levin syndrome Is a False Congenital anomaly of spine Inferred relationship Some
Congenital instability of spine Is a True Congenital anomaly of spine Inferred relationship Some
Congenital coronal cleft of vertebra (disorder) Is a True Congenital anomaly of spine Inferred relationship Some
Pygopagus Is a False Congenital anomaly of spine Inferred relationship Some
Congenital sagittal cleft of vertebra (disorder) Is a True Congenital anomaly of spine Inferred relationship Some
Multiple congenital defects of vertebral segmentation Is a True Congenital anomaly of spine Inferred relationship Some
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Is a True Congenital anomaly of spine Inferred relationship Some
A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. Is a True Congenital anomaly of spine Inferred relationship Some
Melorheostosis of spine (disorder) Is a False Congenital anomaly of spine Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Is a True Congenital anomaly of spine Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Is a False Congenital anomaly of spine Inferred relationship Some
Autosomal recessive Robinow syndrome Is a True Congenital anomaly of spine Inferred relationship Some
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. Is a True Congenital anomaly of spine Inferred relationship Some
Congenital spondylolysis (disorder) Is a True Congenital anomaly of spine Inferred relationship Some
Congenital hypoplasia of facet joint of cervical spine (disorder) Is a False Congenital anomaly of spine Inferred relationship Some
Congenital hypoplasia of vertebral column (disorder) Is a True Congenital anomaly of spine Inferred relationship Some
Congenital dysplasia of spine (disorder) Is a True Congenital anomaly of spine Inferred relationship Some

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