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

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Genetic disease\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cloverleaf skull, asphyxiating thoracic dysplasia syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757981011 Benallegue Lacete syndrome en Synonym Active Case sensitive SNOMED CT core

3757982016 Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3757984015 Cloverleaf skull, asphyxiating thoracic dysplasia syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Finding site	Structure of lambdoid suture of skull	true	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Is a	Cloverleaf skull syndrome	true	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Finding site	Structure of sagittal suture of skull	true	Inferred relationship	Some	4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Is a	Congenital anomaly of rib	true	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Finding site	Structure of coronal suture of skull	true	Inferred relationship	Some	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Finding site	Bone structure of rib	true	Inferred relationship	Some	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757981011	Benallegue Lacete syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3757982016	Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757984015	Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core