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715532007: 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
5400952014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400953016 Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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
3302949011 An apparently familial disorder with features of anterior bowing of tibiae and fibulae and cortical hyperostosis on the concave side of the curvature. Associated anomalies may include short stature and in some cases mental retardation. en Definition Active Entire term case sensitive (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
5400952014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400953016 Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452441001000112 Weismann-Netter-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475501000241118 toxopachyostéose diaphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475501000241118 toxopachyostéose diaphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452441001000112 Weismann-Netter-Syndrom 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
Weismann Netter syndrome (disorder) Is a Bent bone dysplasia group true Inferred relationship Existential restriction modifier (core metadata concept)
Weismann Netter syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Weismann Netter syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Weismann Netter syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Weismann Netter syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Weismann Netter syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Weismann Netter syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Weismann Netter syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Weismann Netter syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Weismann Netter syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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