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715418007: syndrome des contractures congénitales létales type 1 (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
1008511000172117 LCCS1 - lethal congenital contracture syndrome type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302534011 Lethal congenital contracture syndrome type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302535012 Lethal congenital contracture syndrome type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302536013 Herva disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302537016 Multiple contracture syndrome Finnish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
747491000241110 syndrome des contractures congénitales létales type 1 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
991651000172119 syndrome des contractures congénitales létales type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302538014 An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302539018 An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterised by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. 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
Lethal congenital contracture syndrome type 1 (disorder) est un(e) (attribut) Inherited arthrogryposis true Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) localisation d'une constatation (attribut) Structure of joint region true Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) interprète (attribut) Range of joint movement true Inferred relationship Some 2
Lethal congenital contracture syndrome type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 2
Lethal congenital contracture syndrome type 1 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) est un(e) (attribut) Arthrogryposis false Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 1

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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