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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736398017 Perinatal lethal bent bone dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736399013 Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736400018 Fibroblast growth factor receptor 2-related bent bone dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736401019 FGFR2-related bent bone dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3736398017 Perinatal lethal bent bone dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736399013 Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736400018 Fibroblast growth factor receptor 2-related bent bone dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736401019 FGFR2-related bent bone dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3450211001000113 FGFR2-abhängige Dysplasie mit gekrümmten Knochen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228571000241116 dysplasie osseuse avec incurvation des membres liée au récepteur du facteur de croissance des fibroblastes 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228581000241119 dysplasie osseuse avec incurvation des membres périnatale létale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228591000241117 dysplasie osseuse avec incurvation des membres liée à FGFR2 (fibroblast growth factor receptor 2) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228571000241116 dysplasie osseuse avec incurvation des membres liée au récepteur du facteur de croissance des fibroblastes 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228581000241119 dysplasie osseuse avec incurvation des membres périnatale létale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228591000241117 dysplasie osseuse avec incurvation des membres liée à FGFR2 (fibroblast growth factor receptor 2) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450211001000113 FGFR2-abhängige Dysplasie mit gekrümmten Knochen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a Craniosynostosis syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a Bent bone dysplasia group true Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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