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111312006: Anomaly of chromosome X (disorder)

Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
178544019 Anomaly of chromosome X en Synonym Active Initial character case insensitive SNOMED CT core
630219013 Anomaly of chromosome X (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

52 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 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 Is a Anomaly of sex chromosome false Inferred relationship Some
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
Distal Xq28 microduplication syndrome Is a False 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 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
Choroideraemia with deafness and obesity syndrome 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 Is a True Anomaly of chromosome X Inferred relationship Some
Klinefelter syndrome Is a False Anomaly of chromosome X Inferred relationship Some
Trisomy X syndrome 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
Fragile X chromosome 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 Is a False Anomaly of chromosome X Inferred relationship Some
Penta X 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 syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Trisomy Xq28 Is a True Anomaly of chromosome X Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Microduplication Xp11.22p11.23 syndrome Is a True Anomaly of chromosome X Inferred relationship Some
X-linked diffuse leiomyomatosis with Alport syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Xp22.3 microdeletion syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Atypical Norrie disease due to monosomy Xp11.3 Is a True Anomaly of chromosome X Inferred relationship Some
Female with more than three X chromosomes 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
Xq12-q13.3 duplication syndrome Is a True Anomaly of chromosome X Inferred relationship Some
Small ring X chromosome 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 Is a True Anomaly of chromosome X Inferred relationship Some
49,XXXYY syndrome Is a True Anomaly of chromosome X Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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