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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
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
3443791001000119 Chondrodysplasie mit Gelenkkontrakturen, gPAPP-Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590841000241111 chondrodysplasie associée à des luxations articulaires de type phosphatase acide prostatique résidant dans l'appareil de Golgi fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590841000241111 chondrodysplasie associée à des luxations articulaires de type phosphatase acide prostatique résidant dans l'appareil de Golgi fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443791001000119 Chondrodysplasie mit Gelenkkontrakturen, gPAPP-Typ 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
Chondrodysplasia with joint dislocations gPAPP type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a Chondrodysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondrodysplasia with joint dislocations gPAPP type (disorder) Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondrodysplasia with joint dislocations gPAPP type (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondrodysplasia with joint dislocations gPAPP type (disorder) Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder) Associated morphology Damage false Inferred relationship Existential restriction modifier (core metadata concept) 5
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a Bone injury true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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