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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal chromosome 18q deletion syndrome morphologie associée (attribut) Deletion of long arm true Inferred relationship Some 2
Distal chromosome 18q deletion syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Distal chromosome 18q deletion syndrome survenue (attribut) congénital true Inferred relationship Some 1
Distal chromosome 18q deletion syndrome localisation d'une constatation (attribut) Chromosome pair 18 (cell structure) true Inferred relationship Some 2
Distal chromosome 18q deletion syndrome est un(e) (attribut) 18q partial monosomy syndrome (disorder) true Inferred relationship Some
Distal chromosome 18q deletion syndrome survenue (attribut) congénital true Inferred relationship Some 2
Distal chromosome 18q deletion syndrome localisation d'une constatation (attribut) Chromosome pair 18 (cell structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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