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

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\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\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	kongenit præmatur sammenvoksning	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	kongenit præmatur sammenvoksning	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	kongenit præmatur sammenvoksning	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
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant.	Is a	True	Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Inferred relationship	Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Is a	True	Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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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
4614451000005112	Muenke-syndrom	da	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Danish module (core metadata concept)