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205402004: Arthrogryposis multiplex congenita (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
314950010 Arthrogryposis multiplex congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2752036018 Arthrogryposis multiplex congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171544017 Multiple congenital arthrogryposis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171545016 AMC - arthrogryposis multiplex congenita en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5171546015 A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

24 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Arthrogryposis multiplex congenita Is a Arthrogryposis true Inferred relationship Some
Arthrogryposis multiplex congenita Interprets Range of joint movement true Inferred relationship Some 2
Arthrogryposis multiplex congenita Has interpretation Decreased true Inferred relationship Some 2
Arthrogryposis multiplex congenita Occurrence Congenital true Inferred relationship Some 1
Arthrogryposis multiplex congenita Finding site Structure of joint region true Inferred relationship Some 1
Arthrogryposis multiplex congenita Associated morphology Contracture true Inferred relationship Some 1
Arthrogryposis multiplex congenita Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arthrogryposis multiplex congenita Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 3
Arthrogryposis multiplex congenita Associated morphology Contracture true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Pena-Shokeir syndrome type I (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Congenital lethal myopathy Compton North type Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Neurogenic arthrogryposis multiplex congenita (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
X-linked distal arthrogryposis multiplex congenita (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Marden Walker syndrome Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Kuskokwim syndrome Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Van den Ende-Gupta syndrome (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Distal arthrogryposis type 5D (disorder) Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Congenital pontocerebellar hypoplasia type 12 Is a True Arthrogryposis multiplex congenita Inferred relationship Some
Alkuraya Kucinskas syndrome Is a True Arthrogryposis multiplex congenita Inferred relationship Some

Reference Sets

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

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