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715470008: syndrome de nanisme-brachydactylie type Mseleni (trouble)


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
747611000241119 syndrome de nanisme-brachydactylie type Mseleni (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
908931000172112 syndrome de nanisme-brachydactylie type Mseleni fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
969951000172110 maladie articulaire type Mseleni fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type survenue (attribut) congénital false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type survenue (attribut) congénital true Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type est un(e) (attribut) Chondrodysplasia true Inferred relationship Some
Brachydactylous dwarfism Mseleni type est un(e) (attribut) Arthropathy (disorder) true Inferred relationship Some
Brachydactylous dwarfism Mseleni type localisation d'une constatation (attribut) structure articulaire true Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Brachydactylous dwarfism Mseleni type survenue (attribut) congénital false Inferred relationship Some 3
Brachydactylous dwarfism Mseleni type localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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