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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
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
5400866017 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400867014 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterised by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302534011 Lethal congenital contracture syndrome type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
5400866017 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400867014 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterised by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439431001000112 Syndrom der kongenitalen letalen Kontrakturen Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
991651000172119 syndrome des contractures congénitales létales type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008511000172117 LCCS1 - lethal congenital contracture syndrome type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
991651000172119 syndrome des contractures congénitales létales type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008511000172117 LCCS1 - lethal congenital contracture syndrome type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439431001000112 Syndrom der kongenitalen letalen Kontrakturen Typ 1 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
Lethal congenital contracture syndrome type 1 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 1 (disorder) Is a Arthrogryposis false Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 1 (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 1 (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 1 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 1 (disorder) Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 1 (disorder) Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 1 (disorder) Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 1 (disorder) Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal congenital contracture syndrome type 1 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 1 (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal congenital contracture syndrome type 1 (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal congenital contracture syndrome type 1 (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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