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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) localisation d'une constatation (attribut) Structure of lambdoid suture of skull true Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) est un(e) (attribut) Cloverleaf skull syndrome true Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) localisation d'une constatation (attribut) Structure of sagittal suture of skull true Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull false Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of rib true Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) localisation d'une constatation (attribut) Structure of coronal suture of skull true Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) localisation d'une constatation (attribut) Bone structure of rib true Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of bone and joint true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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