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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
189315018 Anomaly of chromosome X, NOS en Synonym Inactive 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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