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\Disorder 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\Disorder 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\Disorder 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\Disorder 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\Disorder 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\Disorder 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\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
\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
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs
\Disease\Disorder of body system\Disorder 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\Disorder 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\Disorder 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\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs
\Disease\Developmental 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	Some
Congenital malformation of genital organs	Is a	Genitourinary congenital anomalies	false	Inferred relationship	Some
Congenital malformation of genital organs	Is a	affection pelvienne	false	Inferred relationship	Some
Congenital malformation of genital organs	Finding site	Genital structure	true	Inferred relationship	Some	1
Congenital malformation of genital organs	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation of genital organs	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Some
Congenital malformation of genital organs	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital malformation of genital organs	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital malformation of genital organs	Is a	Congenital anomaly of genital system	false	Inferred relationship	Some
Congenital malformation of genital organs	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of genital organs	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation of genital organs	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of genital organs	Finding site	Genital structure	false	Inferred relationship	Some	1
Congenital malformation of genital organs	Is a	Genital finding	true	Inferred relationship	Some
Congenital malformation of genital organs	Is a	Disorder of reproductive system	true	Inferred relationship	Some
Congenital malformation of genital organs	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Some
Congenital malformation of genital organs	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital malformation of genital organs	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital malformation of genital organs	Finding site	Genital structure	false	Inferred relationship	Some	2
Congenital malformation of genital organs	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation of genital organs	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital malformation of genital organs	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation of clitoris	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Congenital fistulae between uterus and digestive and urinary tracts	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Atresia of lower vagina	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Congenital penile adhesion	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Congenital absence of labium minor	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Congenital absence of labium major	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Streak gonad	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Gonadal dysgenesis	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Congenital anomaly of female genital system	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Congenital anomaly of male genital system	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Duplication of external genitalia	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized 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	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
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	Some
Embryonic cyst of male genital structure (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated.	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
Pseudohermaphroditism	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
faux hermaphrodite	Is a	False	Congenital malformation of genital organs	Inferred relationship	Some
46,XY disorder of sex development	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
46,XX disorder of sex development	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Congenital anomaly of broad ligament	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some
Congenital hypoplasia of external genitalia (disorder)	Is a	True	Congenital malformation of genital organs	Inferred relationship	Some

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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
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