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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
2995416014 Kuskokwim syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995416014 Kuskokwim syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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 Only initial character 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
3410251001000117 Kuskokwim-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5785601000241116 syndrome de pseudo-arthrogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Existential restriction modifier (core metadata concept)
Kuskokwim syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Kuskokwim syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Kuskokwim syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 1
Kuskokwim syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Kuskokwim syndrome Is a Contracture of multiple joints false Inferred relationship Existential restriction modifier (core metadata concept)
Kuskokwim syndrome Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 1
Kuskokwim syndrome Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 2
Kuskokwim syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 2
Kuskokwim syndrome Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
Kuskokwim syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Kuskokwim syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Kuskokwim syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Kuskokwim syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare syndrome characterised 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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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