278832007: Bent bone dysplasia group (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Bent bone dysplasia group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Bent bone dysplasia group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Bent bone dysplasia group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Bent bone dysplasia group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Bent bone dysplasia group
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Bent bone dysplasia group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Bent bone dysplasia group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Bent bone dysplasia group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Bent bone dysplasia group
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Bent bone dysplasia group
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

415848013 Bent bone dysplasia group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

672037017 Bent bone dysplasia group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5130961000241119 groupe de dysplasie des os courbés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bent bone dysplasia group	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Bent bone dysplasia group	Finding site	Bone structure	true	Inferred relationship	Some	1
Bent bone dysplasia group	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Bent bone dysplasia group	Occurrence	Congenital	false	Inferred relationship	Some
Bent bone dysplasia group	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Bent bone dysplasia group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Bent bone dysplasia group	Finding site	Bone structure	false	Inferred relationship	Some	1
Bent bone dysplasia group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Bent bone dysplasia group	Occurrence	Congenital	false	Inferred relationship	Some	2
Bent bone dysplasia group	Finding site	Bone structure	false	Inferred relationship	Some	2
Bent bone dysplasia group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Bent bone dysplasia group	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Bent bone dysplasia group	Occurrence	Congenital	true	Inferred relationship	Some	1
Bent bone dysplasia group	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kyphomelic dysplasia	Is a	True	Bent bone dysplasia group	Inferred relationship	Some
Stuve-Wiedemann dysplasia (disorder)	Is a	True	Bent bone dysplasia group	Inferred relationship	Some
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.	Is a	True	Bent bone dysplasia group	Inferred relationship	Some
Bent bone dysplasia	Is a	False	Bent bone dysplasia group	Inferred relationship	Some
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.	Is a	True	Bent bone dysplasia group	Inferred relationship	Some
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	Is a	True	Bent bone dysplasia group	Inferred relationship	Some
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.	Is a	True	Bent bone dysplasia group	Inferred relationship	Some
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by 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 hematopoiesis may also be associated.	Is a	True	Bent bone dysplasia group	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	Is a	True	Bent bone dysplasia group	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
415848013	Bent bone dysplasia group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672037017	Bent bone dysplasia group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5130961000241119	groupe de dysplasie des os courbés	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module