778008009: Fibroblast growth factor receptor 2-related bent bone dysplasia (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 2-related bent bone dysplasia

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\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\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fibroblast growth factor receptor 2-related bent bone dysplasia
\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 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\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 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\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\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\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 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Fibroblast growth factor receptor 2-related bent bone dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Fibroblast growth factor receptor 2-related bent bone dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3736398017 Perinatal lethal bent bone dysplasia en Synonym Active Case insensitive SNOMED CT core

3736399013 Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3736400018 Fibroblast growth factor receptor 2-related bent bone dysplasia en Synonym Active Case insensitive SNOMED CT core

3736401019 FGFR2-related bent bone dysplasia en Synonym Active Case sensitive SNOMED CT core

3736402014 A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. en Definition Active Case sensitive SNOMED CT core

3736403016 A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralisation of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibroblast growth factor receptor 2-related bent bone dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Fibroblast growth factor receptor 2-related bent bone dysplasia	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia	Is a	Bent bone dysplasia group	true	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Fibroblast growth factor receptor 2-related bent bone dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 2-related bent bone dysplasia	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Fibroblast growth factor receptor 2-related bent bone dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 2-related bent bone dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Fibroblast growth factor receptor 2-related bent bone dysplasia	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Fibroblast growth factor receptor 2-related bent bone dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 2-related bent bone dysplasia	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Fibroblast growth factor receptor 2-related bent bone dysplasia	Is a	Developmental hereditary disorder	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
3736398017	Perinatal lethal bent bone dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3736399013	Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3736400018	Fibroblast growth factor receptor 2-related bent bone dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3736401019	FGFR2-related bent bone dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3736402014	A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.	en	Definition	Active	Case sensitive	SNOMED CT core
3736403016	A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralisation of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.	en	Definition	Active	Case sensitive	SNOMED CT core