716744000: familiaire hypospadia penis (aandoening)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Familial hypospadias of penis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Familial hypospadias of penis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial hypospadias of penis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malposition (disorder)\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of penis\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of penis\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Familial hypospadias of penis (disorder)
\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)\Disorder of male genital organ (disorder)\Disorder of penis\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\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)\Disorder of male genital organ (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Familial disease\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malposition (disorder)\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Congenital anomaly of male genital system\Congenital anomaly of penis\Penile hypospadias (disorder)\Familial hypospadias of penis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3307398016 Familial hypospadias of penis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307399012 Familial hypospadias of penis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307403015 Familial penile hypospadias en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6472681000146115 familiaire hypospadia penis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6472691000146118 familiaire hypospadia penis (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6472701000146118 familiale hypospadie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3307400017 The displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases. Hypospadias is clinically more or less severe depending on the location of the urethral opening. Familial forms are identified by determining the medical history of the family. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypospadias of penis (disorder)	Is a	Penile hypospadias (disorder)	true	Inferred relationship	Some
Familial hypospadias of penis (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Familial hypospadias of penis (disorder)	Is a	Hereditary disorder of the urinary system	true	Inferred relationship	Some
Familial hypospadias of penis (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Associated morphology	congenitale afwijkende ligging (afwijkende morfologie)	false	Inferred relationship	Some	3
Familial hypospadias of penis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Familial hypospadias of penis (disorder)	Finding site	Structure of urethral meatus	false	Inferred relationship	Some	3
Familial hypospadias of penis (disorder)	Associated morphology	congenitale afwijkende ligging (afwijkende morfologie)	false	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Finding site	Structure of urethral meatus	false	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial hypospadias of penis (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Familial hypospadias of penis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial hypospadias of penis (disorder)	Finding site	Structure of urethral aspect of penis (body structure)	true	Inferred relationship	Some	1
Familial hypospadias of penis (disorder)	Finding site	Male external urethral orifice	true	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Associated morphology	Malposition (morphologic abnormality)	true	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial hypospadias of penis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307398016	Familial hypospadias of penis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307399012	Familial hypospadias of penis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307403015	Familial penile hypospadias	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6472681000146115	familiaire hypospadia penis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6472691000146118	familiaire hypospadia penis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6472701000146118	familiale hypospadie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3307400017	The displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases. Hypospadias is clinically more or less severe depending on the location of the urethral opening. Familial forms are identified by determining the medical history of the family.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core