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715418007: Lethal congenital contracture syndrome type 1 (disorder)


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 Reference Sets
3302534011 Lethal congenital contracture syndrome type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302535012 Lethal congenital contracture syndrome type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302536013 Herva disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3302537016 Multiple contracture syndrome Finnish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation 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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal congenital contracture syndrome type 1 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) Is a Arthrogryposis false Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) Associated morphology Contracture true Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) Finding site Joint structure false Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 (disorder) Interprets 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) Has interpretation Decreased true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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