FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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
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

Back to Start