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783181006: Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

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


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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