716098006: Congenital bowing of long bone (disorder)

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

\Deformity (finding)\Deformation of bone\Bowing deformity of bone\Congenital bowing of long bone (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)

\Musculoskeletal finding\Bone finding\Deformation of bone\Bowing deformity of bone\Congenital bowing of long bone (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304724016 Congenital bowing of long bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304725015 Congenital bowing of long bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital bowing of long bone (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	Knogledeformitet	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Associated morphology	Bowing deformity	true	Inferred relationship	Some	1
Congenital bowing of long bone (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital bowing of long bone (disorder)	Finding site	Structure of long bone	true	Inferred relationship	Some	1
Congenital bowing of long bone (disorder)	Is a	Congenital disease	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	fund vedr. kropsregion	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	Bowing deformity of bone	true	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	Congenital deformity	false	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital bowing of long bone (disorder)	Is a	Congenital deformity of musculoskeletal system (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Antley-Bixler syndrome	Is a	False	Congenital bowing of long bone (disorder)	Inferred relationship	Some
A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.	Is a	True	Congenital bowing of long bone (disorder)	Inferred relationship	Some
Congenital bowing of femur	Is a	True	Congenital bowing of long bone (disorder)	Inferred relationship	Some
Genu recurvatum and long leg bone bowing	Is a	True	Congenital bowing of long bone (disorder)	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	Congenital bowing of long bone (disorder)	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.	Is a	True	Congenital bowing of long bone (disorder)	Inferred relationship	Some
Congenital bowing of ulna	Is a	True	Congenital bowing of long bone (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3304724016	Congenital bowing of long bone (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304725015	Congenital bowing of long bone	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core