715532007: Weismann Netter syndrome (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\Weismann Netter syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome (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\Bent bone dysplasia group\Weismann Netter syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Bent bone dysplasia group\Weismann Netter syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Weismann Netter syndrome (disorder)

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

Status: current, Not 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

3302945017 Weismann Netter syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302947013 Weismann Netter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302948015 Anterior bowing of legs with dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

7681711000172111 syndrome de Weismann-Netter-Stuhl fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7681721000172118 toxopachyostéose diaphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5559431000172114 syndroom van anterieure kromming van benen met dwerggroei nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5559441000172119 Weismann-Netter-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302945017	Weismann Netter syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302947013	Weismann Netter syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302948015	Anterior bowing of legs with dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
7681711000172111	syndrome de Weismann-Netter-Stuhl	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7681721000172118	toxopachyostéose diaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5559431000172114	syndroom van anterieure kromming van benen met dwerggroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5559441000172119	Weismann-Netter-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)