Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3498656013 |
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498657016 |
OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3498658014 |
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498659018 |
OSLAM syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3499951011 |
Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3499952016 |
Syndrome characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Pathological process (attribute) |
Pathological developmental process |
false |
Inferred relationship |
Some |
3 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
1 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
2 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
morphologie associée (attribut) |
structure anormale sur le plan morphologique |
true |
Inferred relationship |
Some |
2 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
localisation d'une constatation (attribut) |
structure d'un membre |
true |
Inferred relationship |
Some |
2 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
localisation d'une constatation (attribut) |
Erythrocyte |
true |
Inferred relationship |
Some |
1 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Disorder of bone development (disorder) |
false |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Developmental hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
morphologie associée (attribut) |
Osteosarcoma (morphologic abnormality) |
true |
Inferred relationship |
Some |
3 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Multiple malformation syndrome with limb defect as major feature |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Congenital anomaly of limb |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
macrocytose - pas d'anémie |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
ostéosarcome de l'os |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Connective tissue hereditary disorder |
false |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
est un(e) (attribut) |
Hereditary red blood cell disorder (disorder) |
true |
Inferred relationship |
Some |
|
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
morphologie associée (attribut) |
Osteosarcoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) |
false |
Inferred relationship |
Some |
3 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
localisation d'une constatation (attribut) |
structure osseuse |
true |
Inferred relationship |
Some |
3 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
morphologie associée (attribut) |
Developmental abnormality |
false |
Inferred relationship |
Some |
5 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
survenue (attribut) |
congénital |
false |
Inferred relationship |
Some |
5 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
localisation d'une constatation (attribut) |
structure d'un membre |
false |
Inferred relationship |
Some |
5 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
survenue (attribut) |
congénital |
false |
Inferred relationship |
Some |
3 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
morphologie associée (attribut) |
Osteosarcoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) |
false |
Inferred relationship |
Some |
4 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
localisation d'une constatation (attribut) |
structure osseuse |
false |
Inferred relationship |
Some |
4 |
|
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
localisation d'une constatation (attribut) |
Erythrocyte |
false |
Inferred relationship |
Some |
3 |
|