Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3330009014 |
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3330010016 |
Lymphedema, atrial septal defect, facial changes syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3330011017 |
Lymphoedema, atrial septal defect, facial changes syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3330012012 |
Irons Bianchi syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3330013019 |
This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3330014013 |
This syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Congenital anomaly of lower limb |
true |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
3 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
localisation d'une constatation (attribut) |
septum interauriculaire (structure corporelle) |
true |
Inferred relationship |
Some |
1 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
morphologie associée (attribut) |
structure anormale sur le plan morphologique |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
morphologie associée (attribut) |
Congenital septal defect (morphologic abnormality) |
true |
Inferred relationship |
Some |
1 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
1 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
localisation d'une constatation (attribut) |
face |
true |
Inferred relationship |
Some |
2 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Developmental hereditary disorder |
false |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Congenital septal defect of heart (disorder) |
false |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
lymphœdème héréditaire |
true |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Cardiovascular system hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Lymphedema of lower extremity (disorder) |
true |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Congenital abnormality of atrial septum (disorder) |
false |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
morphologie associée (attribut) |
Developmental abnormality |
false |
Inferred relationship |
Some |
3 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
3 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
localisation d'une constatation (attribut) |
face |
false |
Inferred relationship |
Some |
3 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
morphologie associée (attribut) |
Congenital septal defect (morphologic abnormality) |
false |
Inferred relationship |
Some |
4 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
survenue (attribut) |
congénital |
false |
Inferred relationship |
Some |
4 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
localisation d'une constatation (attribut) |
septum interauriculaire (structure corporelle) |
false |
Inferred relationship |
Some |
4 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
morphologie associée (attribut) |
Lymphatic oedema |
false |
Inferred relationship |
Some |
5 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
survenue (attribut) |
congénital |
false |
Inferred relationship |
Some |
5 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
localisation d'une constatation (attribut) |
membre inférieur |
false |
Inferred relationship |
Some |
5 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
morphologie associée (attribut) |
Lymphatic oedema |
true |
Inferred relationship |
Some |
3 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
localisation d'une constatation (attribut) |
membre inférieur |
true |
Inferred relationship |
Some |
3 |
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Congenital abnormality of cardiac connection |
true |
Inferred relationship |
Some |
|
|
Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
Congenital atrial septal defect (disorder) |
true |
Inferred relationship |
Some |
|
|