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111312006: Anomaly of chromosome X (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

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

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

This concept is not in any reference sets

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