FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

783181006: klaverbladschedel, asfyxiërende thoracale dysplasie syndroom (aandoening)


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
7953641000146119 klaverbladschedel, asfyxiërende thoracale dysplasie syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7953651000146116 klaverbladschedel, asfyxiërende thoracale dysplasie syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7953661000146118 syndroom van Benallegue-Lacete nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Occurrence Congenital 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) Finding site Structure of lambdoid suture of skull false Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Is a Cloverleaf skull syndrome true Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Finding site Structure of sagittal suture of skull false Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence Congenital 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) Finding site Joint structure of suture of skull false Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology congenitale afwijkende fusie 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) Is a Congenital anomaly of rib true Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence Congenital 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) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Finding site Structure of coronal suture of skull false Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Finding site Bone structure of rib true Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Finding site Structure of lambdoid suture of skull true Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Finding site Structure of sagittal suture of skull true Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Finding site Structure of coronal suture of skull true Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start