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770788000: Tall stature, scoliosis, macrodactyly of great toe syndrome (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
3702797011 Tall stature, scoliosis, macrodactyly of great toe syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702798018 Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702799014 Tall stature, scoliosis, macrodactyly of hallux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404933011 Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404934017 Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterised by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702797011 Tall stature, scoliosis, macrodactyly of great toe syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702798018 Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702799014 Tall stature, scoliosis, macrodactyly of hallux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702800013 A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404933011 Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404934017 Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterised by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1058241000195116 Hochwuchs-lange Grosszehen-multiple zusätzliche Epiphysen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
987621000172119 syndrome de grande taille-scoliose-macrodactylie du gros orteil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
987621000172119 syndrome de grande taille-scoliose-macrodactylie du gros orteil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1058241000195116 Hochwuchs-lange Grosszehen-multiple zusätzliche Epiphysen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396851001000111 Hochwuchs-lange Großzehen-multiple zusätzliche Epiphysen-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
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a Perodactylia of great toe true Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a Macrodactyly of toe (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Finding site Great toe structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tall stature, scoliosis, macrodactyly of great toe syndrome (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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