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723610009: Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3425252013 Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425253015 Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425254014 Casamassima Morton Nance syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425252013 Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425253015 Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425254014 Casamassima Morton Nance syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425255010 Syndrome with the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
651971000274119 Spondylokostale Dysostose mit Analatresie und genitourinärem Fehlbildungssyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971041000172118 syndrome de dysostose spondylo-costale-atrésie anale-malformation génito-urinaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988661000172111 syndrome de Casamassima-Morton-Nance fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971041000172118 syndrome de dysostose spondylo-costale-atrésie anale-malformation génito-urinaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988661000172111 syndrome de Casamassima-Morton-Nance fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
651971000274119 Spondylokostale Dysostose mit Analatresie und genitourinärem Fehlbildungssyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434441001000118 Malignes neuroleptisches Syndrom 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
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Congenital anomaly of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Congenital anomaly of rib true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Anal atresia true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Genitourinary congenital anomalies true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Finding of vertebra (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Finding site Bone structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Finding site Structure of genitourinary system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Finding site Anal structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Finding site Anal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Finding site Structure of genitourinary system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Disorder of vertebral column (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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