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715470008: Brachydactylous dwarfism Mseleni type (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
3302736011 Mseleni joint disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302737019 Brachydactylous dwarfism Mseleni type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303059015 Brachydactylous dwarfism Mseleni type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302738012 A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachydactylous dwarfism Mseleni type Is a Chondrodysplasia (disorder) true Inferred relationship Some
Brachydactylous dwarfism Mseleni type Is a Arthropathy (disorder) true Inferred relationship Some
Brachydactylous dwarfism Mseleni type Finding site Joint structure true Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type Associated morphology Congenital dysplasia false Inferred relationship Some 3
Brachydactylous dwarfism Mseleni type Occurrence Congenital false Inferred relationship Some 3
Brachydactylous dwarfism Mseleni type Finding site Bone structure false Inferred relationship Some 3
Brachydactylous dwarfism Mseleni type Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type Occurrence Congenital false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type Finding site Bone structure false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type Associated morphology Congenital dysplasia false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type Associated morphology Dysplasia true Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type Finding site Bone structure true Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type Occurrence Congenital true Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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