765275003: Male infertility with azoospermia due to single gene mutation (disorder)

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

\Finding of body product\Semen finding\...

\Spermatozoa finding\Azoospermia\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.

\Oligozoospermia\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Finding of fertility (finding)\Fertility problem\Infertile\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Male reproductive finding\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Male reproductive finding\Oligozoospermia\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Male reproductive finding\Azoospermia\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.

\Procedure related finding\Evaluation finding\Spermatozoa finding\Azoospermia\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.

\Functional finding\Reproductive finding\...

\Finding of fertility (finding)\Fertility problem\Infertile\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.

\Male reproductive finding\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Male reproductive finding\Oligozoospermia\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Male reproductive finding\Azoospermia\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.

\Disease\Genetic disease\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Azoospermia disorder (disorder)\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Male infertility\Primary male infertility (disorder)\Male infertility of genetic origin\A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3657744015 A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3657740012 Male infertility with azoospermia due to single gene mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3657741011 Male infertility with azoospermia due to single gene mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6367291000241118 infertilité chez l'homme avec azoospermie due à la mutation d'un seul gène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367301000241119 infertilité masculine avec azoospermie due à une mutation monogénique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Is a	Male infertility of chromosomal origin	false	Inferred relationship	Some
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Occurrence	Congenital	false	Inferred relationship	Some	5
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Finding site	Male genital organ structure	false	Inferred relationship	Some	5
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Due to	Chromosomal disorder (disorder)	false	Inferred relationship	Some	4
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Interprets	Examination of spermatozoa (procedure)	true	Inferred relationship	Some	5
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Interprets	Male reproductive function	true	Inferred relationship	Some	3
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Interprets	Semen observable	false	Inferred relationship	Some	2
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Is a	Azoospermia disorder (disorder)	true	Inferred relationship	Some
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Is a	Male genital organ disorder associated with another disorder (disorder)	false	Inferred relationship	Some
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Has interpretation	Decreased	true	Inferred relationship	Some	1
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Interprets	Concentration of spermatozoa (observable entity)	true	Inferred relationship	Some	1
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Finding site	Male genital organ structure	true	Inferred relationship	Some	2
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Due to	Genetic mutation	true	Inferred relationship	Some	4
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Is a	Oligozoospermia	true	Inferred relationship	Some
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Is a	Male infertility of genetic origin	true	Inferred relationship	Some
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	Interprets	Fertility, function (observable entity)	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3657744015	A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657740012	Male infertility with azoospermia due to single gene mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3657741011	Male infertility with azoospermia due to single gene mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6367291000241118	infertilité chez l'homme avec azoospermie due à la mutation d'un seul gène	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6367301000241119	infertilité masculine avec azoospermie due à une mutation monogénique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module