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111312006: Anomaly of chromosome X (disorder)

Status: current, 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
178544019 Anomaly of chromosome X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
189315018 Anomaly of chromosome X, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
630219013 Anomaly of chromosome X (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

50 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome X morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Anomaly of chromosome X localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
Anomaly of chromosome X morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
Anomaly of chromosome X est un(e) (attribut) maladie chromosomique congénitale false Inferred relationship Some
Anomaly of chromosome X survenue (attribut) congénital false Inferred relationship Some 1
Anomaly of chromosome X est un(e) (attribut) Anomaly of sex chromosome true Inferred relationship Some
Anomaly of chromosome X morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Anomaly of chromosome X localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
Anomaly of chromosome X localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
Anomaly of chromosome X morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome X survenue (attribut) congénital false Inferred relationship Some
Anomaly of chromosome X est un(e) (attribut) Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome X survenue (attribut) congénital true Inferred relationship Some 2
Anomaly of chromosome X morphologie associée (attribut) Chromosomal morphology true Inferred relationship Some 2
Anomaly of chromosome X localisation d'une constatation (attribut) Sex chromosome X (cell structure) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal Xq28 microduplication syndrome est un(e) (attribut) False Anomaly of chromosome X Inferred relationship Some
Xp22.13p22.2 duplication syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Paternal uniparental disomy of chromosome X est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Maternal uniparental disomy of chromosome X (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
X-linked acrogigantism due to Xq26 microduplication est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Xq25 microduplication syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Klinefelter syndrome est un(e) (attribut) False Anomaly of chromosome X Inferred relationship Some
Trisomy X syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
syndrome de Turner est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
XXXXY syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Fragile X chromosome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Klinefelter's syndrome (disorder) est un(e) (attribut) False Anomaly of chromosome X Inferred relationship Some
Four X syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Klinefelter's syndrome est un(e) (attribut) False Anomaly of chromosome X Inferred relationship Some
Penta X syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
XX males est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
XXXY syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Klinefelter syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Chromosome Xq28 trisomy (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Microduplication Xp11.22p11.23 syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Chromosome Xp22.3 microdeletion syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Atypical Norrie disease due to monosomy Xp11.3 (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
Female with more than three X chromosomes est un(e) (attribut) False Anomaly of chromosome X Inferred relationship Some
Mosaicism - lines with various numbers of X chromosomes est un(e) (attribut) False Anomaly of chromosome X Inferred relationship Some
syndrome de duplication Xq12-q13.3 est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
X small rings est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
X-linked acrogigantism est un(e) (attribut) False Anomaly of chromosome X Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some
49,XXXYY syndrome est un(e) (attribut) True Anomaly of chromosome X Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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