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716232002: Autosomal dominant spondylocostal dysostosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401273011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401274017 A very rare and mild form of spondylocostal dysostosis characterised by vertebral and costal segmentation defects, often with a reduction in the number of ribs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305158011 Autosomal dominant spondylocostal dysostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305159015 Autosomal dominant spondylocostal dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305160013 Autosomal dominant spondylocostal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
880801000172115 dysplasie spondylo-costale autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912191000172113 dysostose spondylo-costale autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423431001000112 Dysostose, spondylokostale, autosomal-dominante de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 Autosomal dominant hereditary disorder (disorder) true 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 Congenital anomaly of spine false 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 Dysostosis true 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 Congenital anomaly of rib true 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 Finding of vertebra false 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 Connective tissue hereditary disorder false 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 Hereditary disorder of musculoskeletal system true 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. Associated morphology Congenital dysplasia false Inferred relationship Some 2
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. Occurrence Congenital true Inferred relationship Some 2
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. Finding site Bone structure of rib false Inferred relationship Some 2
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. Associated morphology Congenital dysplasia false Inferred relationship Some 3
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. Occurrence Congenital false Inferred relationship Some 3
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. Finding site Bone structure of spine false Inferred relationship Some 3
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. Finding site Bone structure of spine true Inferred relationship Some 2
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. Occurrence Congenital true Inferred relationship Some 1
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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
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. Associated morphology Congenital dysplasia false Inferred relationship Some 1
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. Finding site Bone structure of rib true Inferred relationship Some 1
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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
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 Disorder of vertebral column (disorder) false 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. Associated morphology Dysplasia true Inferred relationship Some 2
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. Associated morphology Dysplasia true Inferred relationship Some 1
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 Developmental hereditary disorder true 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 Congenital dysplasia of spine (disorder) true 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 Congenital dysplasia of thorax (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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