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 |
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 |
|