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782689003: congenitale pseudoartrose van extremiteit (aandoening)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755222010 Congenital pseudoarthrosis of limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755223017 Congenital pseudoarthrosis of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7741461000146110 congenitale pseudoartrose van extremiteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7741471000146116 congenitale pseudoartrose van extremiteit (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3755224011 A rare genetic non-syndromic limb malformation with characteristics of delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital pseudoarthrosis of limb (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital pseudoarthrosis of limb (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Congenital pseudoarthrosis of limb (disorder) Is a Congenital anomaly of limb true Inferred relationship Some
Congenital pseudoarthrosis of limb (disorder) Associated morphology congenitale pseudoartrose (afwijkende morfologie) false Inferred relationship Some 1
Congenital pseudoarthrosis of limb (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Congenital pseudoarthrosis of limb (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital pseudoarthrosis of limb (disorder) Is a Pseudoarthrosis (disorder) true Inferred relationship Some
Congenital pseudoarthrosis of limb (disorder) Associated morphology Pseudoarthrosis true Inferred relationship Some 1
Congenital pseudoarthrosis of limb (disorder) Is a Genetic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital pseudoarthrosis of tibia (disorder) Is a True Congenital pseudoarthrosis of limb (disorder) Inferred relationship Some
Congenital pseudoarthrosis of clavicle (disorder) Is a True Congenital pseudoarthrosis of limb (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

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