Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
4963741017 |
Eye defects, arachnodactyly, cardiopathy syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4963742012 |
Al Gazali Al Talabani syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4963743019 |
Eye defects, arachnodactyly, cardiopathy syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4963744013 |
Al Gazali Lytle syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
13579421000146114 |
syndroom van oogdefect, dolichostenomelie en hartziekte |
nl |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13579431000146111 |
syndroom van Al Gazali-Lytle |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13579441000146115 |
syndroom van oogdefect, acanthodactylie en hartziekte |
nl |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13579451000146117 |
syndroom van oogdefect, acromacrie en hartziekte |
nl |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13579461000146119 |
syndroom van oogdefect, spinnenkopvingers en hartaandoening |
nl |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13579471000146113 |
syndroom van Al Gazali-Al Talabani |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13579481000146110 |
syndroom van oogdefect, arachnodactylie en hartziekte |
nl |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13579491000146112 |
syndroom van oogdefect, arachnodactylie en hartziekte (aandoening) |
nl |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
4963745014 |
A rare genetic bone development disorder with characteristics of pre and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia) and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life. Caused by mutation in the B3GALT6 gene on chromosome 1p36. |
en |
Definition |
Inactive |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Dysostosis |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Multiple malformation syndrome with facial-limb defects as major feature |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Cardiovascular system hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Congenital anomaly of anterior segment of eye (disorder) |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Heart disease |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Congenital cardiovascular disorder (disorder) |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
1 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Some |
1 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
2 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Finding site |
Anterior eyeball segment structure |
true |
Inferred relationship |
Some |
2 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Associated morphology |
Morphologically abnormal structure (morphologic abnormality) |
true |
Inferred relationship |
Some |
2 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
3 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Finding site |
Face structure |
true |
Inferred relationship |
Some |
3 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Associated morphology |
Morphologically abnormal structure (morphologic abnormality) |
true |
Inferred relationship |
Some |
3 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
3 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
5 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Finding site |
Heart structure |
true |
Inferred relationship |
Some |
5 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Finding site |
Bone structure of extremity |
true |
Inferred relationship |
Some |
1 |
|
Eye defects, arachnodactyly, cardiopathy syndrome |
Is a |
Congenital dysplasia of limb (disorder) |
true |
Inferred relationship |
Some |
|
|