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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
5973201000172111 anomalie du chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5262651000172112 aangeboren afwijking van geslachtschromosoom X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5262661000172114 congenitale anomalie van X-chromosoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

48 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome X Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome X Finding site Sex chromosome X false Inferred relationship Some 1
Anomaly of chromosome X Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome X Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome X Associated morphology Congenital anomaly false Inferred relationship Some 1
Anomaly of chromosome X Finding site Sex chromosome X false Inferred relationship Some 1
Anomaly of chromosome X Associated morphology Congenital anomaly false Inferred relationship Some
Anomaly of chromosome X Is a Congenital chromosomal disease false Inferred relationship Some
Anomaly of chromosome X Occurrence Congenital false Inferred relationship Some 1
Anomaly of chromosome X Is a Anomaly of sex chromosome true Inferred relationship Some
Anomaly of chromosome X Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Anomaly of chromosome X Finding site Sex chromosome X false Inferred relationship Some 1
Anomaly of chromosome X Occurrence Congenital true Inferred relationship Some 2
Anomaly of chromosome X Associated morphology Chromosomal morphology true Inferred relationship Some 2
Anomaly of chromosome X Finding site Sex chromosome X true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Fragile X chromosome Is a True Anomaly of chromosome X Inferred relationship Some
Female with more than three X chromosomes (disorder) Is a False Anomaly of chromosome X Inferred relationship Some
Mosaicism - lines with various numbers of X chromosomes Is a False Anomaly of chromosome X Inferred relationship Some
Klinefelter syndrome Is a False Anomaly of chromosome X Inferred relationship Some
Trisomy X syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
Turner syndrome Is a True Anomaly of chromosome X Inferred relationship Some
XXXXY syndrome Is a True Anomaly of chromosome X Inferred relationship Some
XX males Is a True Anomaly of chromosome X Inferred relationship Some
XXXY syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Klinefelter's syndrome Is a False Anomaly of chromosome X Inferred relationship Some
Four X syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Klinefelter's syndrome - male with more than two X chromosomes Is a False Anomaly of chromosome X Inferred relationship Some
Penta X syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Klinefelter syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
trisomie chromosomique Xq28 Is a False Anomaly of chromosome X Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
Microduplication Xp11.22p11.23 syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
Chromosome Xp22.3 microdeletion syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
Xq12-q13.3 duplication syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
X small rings Is a True Anomaly of chromosome X Inferred relationship Some
X-linked acrogigantism Is a False Anomaly of chromosome X Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
49,XXXYY syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Distal Xq28 microduplication syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Xp22.13p22.2 duplication syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Paternal uniparental disomy of chromosome X Is a True Anomaly of chromosome X Inferred relationship Some
Maternal uniparental disomy of chromosome X (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
X-linked acrogigantism due to Xq26 microduplication Is a True Anomaly of chromosome X Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
Xq25 microduplication syndrome Is a True Anomaly of chromosome X Inferred relationship Some
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Some
MECP2 duplication syndrome Is a True Anomaly of chromosome X Inferred relationship Some

Reference Sets

GB English

US English

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