Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3760097015 |
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760098013 |
Ostravik Lindemann Solberg syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3760099017 |
Heart defect, tongue hamartoma, polysyndactyly syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760100013 |
A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3760097015 |
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760098013 |
Ostravik Lindemann Solberg syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3760099017 |
Heart defect, tongue hamartoma, polysyndactyly syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760100013 |
A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3424381001000117 |
Herzfehler-Zungenhamartom-Polysyndaktylie-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1013411000241117 |
syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1013411000241117 |
syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3424381001000117 |
Herzfehler-Zungenhamartom-Polysyndaktylie-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Is a |
Congenital heart disease (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Is a |
Polysyndactyly (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Finding site |
Heart structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Finding site |
Digit structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Is a |
Genetic disease |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Is a |
Multiple malformation syndrome with limb defect as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Is a |
Hamartoma of tongue |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Finding site |
Tongue structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Associated morphology |
Supernumerary structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Associated morphology |
Hamartoma |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Finding site |
Digit structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Associated morphology |
Abnormally fused structure (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Is a |
Disorder of digestive system specific to fetus OR newborn |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|