440350001: fibroblastgroeifactorreceptor 3-gerelateerde craniosynostose (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

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

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
2789776013	Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2792566012	Fibroblast growth factor receptor 3-related craniosynostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2794177011	Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7958221000146116	fibroblastgroeifactorreceptor 3-gerelateerde craniosynostose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7958231000146119	fibroblastgroeifactorreceptor 3-gerelateerde craniosynostose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9341731000146117	FGFR3-gerelateerde craniosynostose	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)