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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
3305158011 Autosomal dominant spondylocostal dysostosis (disorder) en Fully specified name Active Only initial character case insensitive (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 Only initial character 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 Only initial character 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
3305161012 A very rare and mild form of spondylocostal dysostosis with characteristics of 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
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
3423431001000112 Dysostose, spondylokostale, autosomal-dominante de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
Autosomal dominant spondylocostal dysostosis (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a Congenital anomaly of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a Congenital anomaly of rib true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a Finding of vertebra (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spondylocostal dysostosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spondylocostal dysostosis (disorder) Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spondylocostal dysostosis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spondylocostal dysostosis (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spondylocostal dysostosis (disorder) Finding site Bone structure of spine false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spondylocostal dysostosis (disorder) Finding site Bone structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spondylocostal dysostosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spondylocostal dysostosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spondylocostal dysostosis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spondylocostal dysostosis (disorder) Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spondylocostal dysostosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spondylocostal dysostosis (disorder) Is a Disorder of vertebral column (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spondylocostal dysostosis (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spondylocostal dysostosis (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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