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782882009: Chondrodysplasia with joint dislocations gPAPP type (disorder)


Status: current, Not 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
3756539016 Chondrodysplasia with joint dislocations gPAPP type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756540019 Chondrodysplasia with joint dislocations gPAPP type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756542010 A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756543017 A rare genetic primary bone dysplasia characterised by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centres and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. 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
Chondrodysplasia with joint dislocations gPAPP type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) est un(e) (attribut) Multiple dislocations with dysplasia true Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) est un(e) (attribut) Chondrodysplasia true Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) localisation d'une constatation (attribut) Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Chondrodysplasia with joint dislocations gPAPP type (disorder) morphologie associée (attribut) Dislocation true Inferred relationship Some 2
Chondrodysplasia with joint dislocations gPAPP type (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Chondrodysplasia with joint dislocations gPAPP type (disorder) Due to Spontaneous event (event) true Inferred relationship Some 4
Chondrodysplasia with joint dislocations gPAPP type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) morphologie associée (attribut) Damage false Inferred relationship Some 5
Chondrodysplasia with joint dislocations gPAPP type (disorder) est un(e) (attribut) Bone injury true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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