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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
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
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


0 descendants.

Expanded Value Set


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