440350001: Fibroblast growth factor receptor 3-related craniosynostosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis

Status: current, Primitive. Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2789776013 Fibroblast growth factor receptor 3-related craniosynostosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2792566012 Fibroblast growth factor receptor 3-related craniosynostosis en Synonym Active Case insensitive SNOMED CT core

2794177011 Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis en Synonym Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibroblast growth factor receptor 3-related craniosynostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis	Occurrence	Congenital	false	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis	Finding site	Structure of coronal suture of skull	false	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis	Finding site	Structure of coronal suture of skull	false	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Fibroblast growth factor receptor 3-related craniosynostosis	Is a	Congenital anomaly of bone and joint	false	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis	Is a	Cranial suture finding	false	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis	Is a	Disorder of skull	false	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis	Is a	Disorder of bone development	false	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Fibroblast growth factor receptor 3-related craniosynostosis	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Muenke syndrome	Is a	True	Fibroblast growth factor receptor 3-related craniosynostosis	Inferred relationship	Some
Crouzon syndrome with acanthosis nigricans	Is a	True	Fibroblast growth factor receptor 3-related craniosynostosis	Inferred relationship	Some

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
2789776013	Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2792566012	Fibroblast growth factor receptor 3-related craniosynostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
2794177011	Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core