371118004: Congenital anomaly of endocrine gonad (disorder)

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\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\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\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 endocrine gonad\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\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 endocrine gonad\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\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\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\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 endocrine gonad\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (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\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (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\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (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\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1196414010 Congenital anomaly of endocrine gonad (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1209822014 Congenital anomaly of endocrine gonad en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5236241000241111 anomalie congénitale de la fonction endocrine gonadique 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
Congenital anomaly of endocrine gonad (disorder)	Is a	Congenital anomaly of endocrine gland	false	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Is a	Congenital anomaly of genital organ	false	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Is a	Disorder of endocrine gonad	true	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Is a	Congenital malformation of genital organs	false	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Is a	Congenital anomaly of endocrine gland	true	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Finding site	Genital structure	false	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Finding site	Genital structure	false	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Is a	Gonadal dysgenesis	true	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Congenital anomaly of endocrine gonad (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	3
Congenital anomaly of endocrine gonad (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital anomaly of endocrine ovary (disorder)	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Congenital anomaly of endocrine testis (disorder)	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Epoophoron	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Tubule of epoophoron	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Duct of epoophoron	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Paroophoron	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Tubule of paroophoron	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Reifenstein syndrome	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.	Is a	False	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
Ovotesticular disorder of sex development	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some
A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).	Is a	True	Congenital anomaly of endocrine gonad (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1196414010	Congenital anomaly of endocrine gonad (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1209822014	Congenital anomaly of endocrine gonad	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5236241000241111	anomalie congénitale de la fonction endocrine gonadique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module