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702447002: Arthrogryposis-like syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2995416014 Kuskokwim syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995421012 Arthrogryposis-like syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995516012 Arthrogryposis-like syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5785601000241116 syndrome de pseudo-arthrogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410251001000117 Kuskokwim-Syndrom 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
Kuskokwim syndrome Is a Contracture of joint of multiple sites false Inferred relationship Some
Kuskokwim syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Kuskokwim syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Kuskokwim syndrome Associated morphology Contracture true Inferred relationship Some 1
Kuskokwim syndrome Finding site Joint structure false Inferred relationship Some 1
Kuskokwim syndrome Is a Contracture of multiple joints false Inferred relationship Some
Kuskokwim syndrome Finding site Structure of joint region true Inferred relationship Some 1
Kuskokwim syndrome Interprets Range of joint movement true Inferred relationship Some 2
Kuskokwim syndrome Has interpretation Decreased true Inferred relationship Some 2
Kuskokwim syndrome Is a Inherited arthrogryposis true Inferred relationship Some
Kuskokwim syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Kuskokwim syndrome Occurrence Congenital true Inferred relationship Some 1
Kuskokwim syndrome Is a 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. true Inferred relationship Some
Kuskokwim syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 3
Kuskokwim syndrome Associated morphology Contracture true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Is a False Kuskokwim syndrome Inferred relationship Some

This concept is not in any reference sets

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