715532007: Weismann Netter syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome

\Disease\Genetic disease\Weismann Netter syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome
\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\Weismann Netter syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302945017 Weismann Netter syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3302947013 Weismann Netter syndrome en Synonym Active Case sensitive SNOMED CT core

3302948015 Anterior bowing of legs with dwarfism en Synonym Active Case insensitive SNOMED CT core

5155334011 A rare genetic primary bent bone dysplasia with characteristics of 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Weismann Netter syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Weismann Netter syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Weismann Netter syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Weismann Netter syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Weismann Netter syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Weismann Netter syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Weismann Netter syndrome	Is a	Bent bone dysplasia group	true	Inferred relationship	Some
Weismann Netter syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Weismann Netter syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Weismann Netter syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2

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
3302945017	Weismann Netter syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3302947013	Weismann Netter syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302948015	Anterior bowing of legs with dwarfism	en	Synonym	Active	Case insensitive	SNOMED CT core
5155334011	A rare genetic primary bent bone dysplasia with characteristics of 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.	en	Definition	Active	Case sensitive	SNOMED CT core