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765171002: Distal chromosome 18q deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657315019 Distal 18q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657316018 Distal monosomy 18q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657320019 Distal chromosome 18q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657321015 Distal chromosome 18q deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657319013 A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657315019 Distal 18q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657316018 Distal monosomy 18q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657320019 Distal chromosome 18q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657321015 Distal chromosome 18q deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657319013 A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
6075781000241111 syndrome de délétion distale du bras long du chromosome 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075791000241113 monosomie distale 18q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075801000241112 syndrome de délétion distale du chromosome 18q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075781000241111 syndrome de délétion distale du bras long du chromosome 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075791000241113 monosomie distale 18q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075801000241112 syndrome de délétion distale du chromosome 18q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal chromosome 18q deletion syndrome Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal chromosome 18q deletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal chromosome 18q deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal chromosome 18q deletion syndrome Finding site Chromosome pair 18 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal chromosome 18q deletion syndrome Is a 18q partial monosomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Distal chromosome 18q deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal chromosome 18q deletion syndrome Finding site Chromosome pair 18 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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