717158001: Partial chromosome Y deletion (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome Y\Partial chromosome Y deletion (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome Y\Partial chromosome Y deletion (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308547014	Partial chromosome Y deletion (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308548016	Partial chromosome Y deletion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401491016	A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401492011	A genetic male infertility characterised by azoospermia or oligozoospermia due to chromosome Y microdeletion.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308547014	Partial chromosome Y deletion (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308548016	Partial chromosome Y deletion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308549012	A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401491016	A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401492011	A genetic male infertility characterised by azoospermia or oligozoospermia due to chromosome Y microdeletion.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3420081001000114	Chromosom Y-Deletion, partielle	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
880441000172116	stérilité masculine par délétion de l'Y	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
925521000172116	délétion partielle du chromosome Y	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
880441000172116	stérilité masculine par délétion de l'Y	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
925521000172116	délétion partielle du chromosome Y	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420081001000114	Chromosom Y-Deletion, partielle	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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