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770945001: Tetramelic monodactyly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3703556012 Tetramelic monodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703557015 Sommer Hines syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3703558013 Tetramelic monodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404976013 Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404977016 Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3703556012 Tetramelic monodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703557015 Sommer Hines syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3703558013 Tetramelic monodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703559017 A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404976013 Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404977016 Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415701001000119 Monodaktylie, tetramelische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
946811000172115 syndrome de Sommer-Hines fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995171000172118 monodactylie tétramélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
946811000172115 syndrome de Sommer-Hines fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995171000172118 monodactylie tétramélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415701001000119 Monodaktylie, tetramelische 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
Tetramelic monodactyly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetramelic monodactyly (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetramelic monodactyly (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetramelic monodactyly (disorder) Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetramelic monodactyly (disorder) Finding site Bone structure of extremity true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetramelic monodactyly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetramelic monodactyly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetramelic monodactyly (disorder) Is a Congenital anomaly of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetramelic monodactyly (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetramelic monodactyly (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a Adactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a Aplasia of limb 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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