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768935003: dysplasie épiphysaire multiple type Lowry (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1010531000172112 dysplasie épiphysaire multiple avec phénotype de Robin fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3687540019 Multiple epiphyseal dysplasia Lowry type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3687541015 Multiple epiphyseal dysplasia Lowry type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3687542010 Multiple epiphyseal dysplasia with Robin phenotype en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
769141000241114 dysplasie épiphysaire multiple type Lowry (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
996561000172112 dysplasie épiphysaire multiple type Lowry fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3687543017 A rare primary bone dysplasia with characteristics of small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. 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
Multiple epiphyseal dysplasia Lowry type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple epiphyseal dysplasia Lowry type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Multiple epiphyseal dysplasia Lowry type (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 2
Multiple epiphyseal dysplasia Lowry type (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 3
Multiple epiphyseal dysplasia Lowry type (disorder) est un(e) (attribut) dysplasie épiphysaire multiple true Inferred relationship Some
Multiple epiphyseal dysplasia Lowry type (disorder) localisation d'une constatation (attribut) Structure of epiphysis true Inferred relationship Some 1
Multiple epiphyseal dysplasia Lowry type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Multiple epiphyseal dysplasia Lowry type (disorder) survenue (attribut) congénital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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