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111312006: Anomaly of chromosome X (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X

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

Descriptions:

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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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
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)