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770788000: syndrome de grande taille-scoliose-macrodactylie du gros orteil (trouble)


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
769921000241116 syndrome de grande taille-scoliose-macrodactylie du gros orteil (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tall stature, scoliosis, macrodactyly of great toe syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome morphologie associée (attribut) hypertrophie true Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) Perodactylia of great toe true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome survenue (attribut) congénital true Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) Dysostosis true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) Macrodactyly of toe (disorder) true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) Multiple malformation syndrome with early overgrowth (disorder) true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome survenue (attribut) congénital true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome localisation d'une constatation (attribut) Hallux structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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