Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3757981011 |
Benallegue Lacete syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3757982016 |
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3757984015 |
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3757983014 |
A rare syndromic craniosynostosis with characteristics of prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3757981011 |
Benallegue Lacete syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3757982016 |
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3757984015 |
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3757983014 |
A rare syndromic craniosynostosis with characteristics of prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3430311001000118 |
Kleeblattschädel - asphyxierende Thoraxdysplasie |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5846601000241115 |
syndrome de Benallegue-Lacete |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5846611000241118 |
syndrome de crâne en trèfle et DTA (dysplasie thoracique asphyxiante) |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5846621000241113 |
syndrome de crâne en trèfle et dysplasie thoracique asphyxiante |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5846601000241115 |
syndrome de Benallegue-Lacete |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5846611000241118 |
syndrome de crâne en trèfle et DTA (dysplasie thoracique asphyxiante) |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5846621000241113 |
syndrome de crâne en trèfle et dysplasie thoracique asphyxiante |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3430311001000118 |
Kleeblattschädel - asphyxierende Thoraxdysplasie |
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 |
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Structure of lambdoid suture of skull (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Is a |
Cloverleaf skull syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Congenital premature fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Structure of sagittal suture of skull |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Joint structure of suture of skull |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Is a |
Skeletal dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Is a |
Congenital anomaly of rib |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Structure of coronal suture of skull |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Bone structure of rib |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Congenital premature fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Congenital premature fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Congenital premature fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Is a |
Congenital anomaly of bone and joint |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Structure of lambdoid suture of skull (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Premature fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Structure of sagittal suture of skull |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Premature fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
Structure of coronal suture of skull |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
Premature fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|