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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

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
Lethal congenital contracture syndrome type 1 (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 3
Lethal congenital contracture syndrome type 1 (disorder) Associated morphology Contracture true Inferred relationship Some 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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