Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
4955468016 |
Lymphedema, posterior choanal atresia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4955469012 |
Lymphedema, posterior choanal atresia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4955470013 |
Lymphoedema, posterior choanal atresia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4955471012 |
A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4955472017 |
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Lymphedema, posterior choanal atresia syndrome (disorder) |
est un(e) (attribut) |
atrésie choanale (trouble) |
true |
Inferred relationship |
Some |
|
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
est un(e) (attribut) |
lymphœdème héréditaire |
false |
Inferred relationship |
Some |
|
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
est un(e) (attribut) |
Developmental hereditary disorder |
false |
Inferred relationship |
Some |
|
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
est un(e) (attribut) |
Digestive system hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
est un(e) (attribut) |
Lymphedema of lower extremity (disorder) |
true |
Inferred relationship |
Some |
|
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
est un(e) (attribut) |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
localisation d'une constatation (attribut) |
Structure of choana (body structure) |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
morphologie associée (attribut) |
Congenital atresia (morphologic abnormality) |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
localisation d'une constatation (attribut) |
membre inférieur |
true |
Inferred relationship |
Some |
1 |
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
morphologie associée (attribut) |
Lymphatic oedema |
true |
Inferred relationship |
Some |
1 |
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
est un(e) (attribut) |
lymphœdème héréditaire |
true |
Inferred relationship |
Some |
|
|
Lymphedema, posterior choanal atresia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|