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205681004: Gonadal dysgenesis (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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\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
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\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

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
Gonadal dysgenesis	Is a	Disorder of endocrine gonad	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis	Is a	Disorder of reproductive system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis	Is a	Genital finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis	Finding site	Gonadal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Gonadal dysgenesis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Gonadal dysgenesis	Is a	Congenital malformation of genital organs	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mixed gonadal dysgenesis	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Other gonadal dysgenesis phenotype NOS	Is a	False	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis NOS	Is a	False	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Ovarian dysgenesis	Is a	False	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Testicular regression syndrome	Is a	False	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of ovary	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Pure gonadal dysgenesis	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of testis	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of endocrine gonad (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of gonads (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of gonad	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Accessory gonad	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
SERKAL syndrome	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Splenogonadal fusion	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Male pseudohermaphroditism	Is a	False	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre	Is a	False	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Warburg micro syndrome (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315432016	Gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591083017	Gonadal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315432016	Gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315432016	Gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591083017	Gonadal dysgenesis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
591083017	Gonadal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4886361000241113	dysgénésie gonadique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4886361000241113	dysgénésie gonadique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module