204821009: Congenital malformation of genital organs (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
\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
\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs
\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
\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
\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
\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
\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
\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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\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
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation of genital organs	Is a	Disorder of reproductive system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Is a	Genitourinary congenital anomalies	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Is a	Disease of pelvis (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Finding site	Genital structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Is a	Congenital anomaly of genital system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	Is a	Genital finding	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Is a	Disorder of reproductive system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of genital organs	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of genital organs	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of genital organs	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of genital organs	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	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
Congenital malformation of clitoris	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital fistulae between uterus and digestive and urinary tracts (disorder)	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Atresia of lower vagina (disorder)	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital penile adhesion	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of labium minor	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of labium major	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Streak gonad	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of female genital system (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of male genital system (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
McKusick Kaufman syndrome	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of external genitalia	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Harrod syndrome	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Embryonic cyst of male genital structure (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Meacham syndrome (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XY ovotesticular disorder of sex development	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudohermaphroditism (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	Is a	False	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
False hermaphrodite	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XY disorder of sex development	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XX disorder of sex development	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of broad ligament	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)
Robinow syndrome	Is a	True	Congenital malformation of genital organs	Inferred relationship	Existential restriction modifier (core metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
314084012	Congenital malformation of genital organs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
314085013	Congenital genital organ anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590101013	Congenital malformation of genital organs (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1494970015	Congenital deformity of genital organ	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1494971016	Congenital anomaly of genital organ	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
314084012	Congenital malformation of genital organs	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
314084012	Congenital malformation of genital organs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
314085013	Congenital genital organ anomalies	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
314085013	Congenital genital organ anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590101013	Congenital malformation of genital organs (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
590101013	Congenital malformation of genital organs (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1494970015	Congenital deformity of genital organ	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1494970015	Congenital deformity of genital organ	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1494971016	Congenital anomaly of genital organ	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1494971016	Congenital anomaly of genital organ	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
922571000195119	malformazione congenita degli organi genitali	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
328171000172113	malformation congénitale des organes génitaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
328171000172113	malformation congénitale des organes génitaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
922571000195119	malformazione congenita degli organi genitali	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module