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71934003: Genital structure (body structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
502003018 Genital structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
812155011 Genital structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


1543 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genital structure Is a This structure, also termed the pelvic region, includes the wall, cavity and content of both the true and false pelvis; it consequently incorporates the entire bony pelvis; and inferiorly it is bounded and includes the pelvic diaphragm. The structure incorporates the complete pelvic wall; sacrococcygeal region (including the overlying skin and subcutaneous tissue); the contents of the false pelvic cavity; but in contrast to the 'pelvic segment of trunk' excludes the perineum, external genitalia. false Inferred relationship Some
Genital structure Is a Structure of anatomical reproductive system (body structure) true Inferred relationship Some
Genital structure partie de Entire genitourinary system false Additional relationship Some
Genital structure partie de Surface region of lower trunk false Additional relationship Some
Genital structure partie de Entire female false Inferred relationship Some
Genital structure Is a Structure of genitourinary system (body structure) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Persistent urogenital sinus Finding site False Genital structure Inferred relationship Some 2
Chlamydia trachomatis infection of genital structure (disorder) Finding site True Genital structure Inferred relationship Some 1
Pelvic peritonitis following molar AND/OR ectopic pregnancy Finding site False Genital structure Inferred relationship Some 2
Fallopian tube infection Finding site False Genital structure Inferred relationship Some 1
Blister of vagina with infection Finding site False Genital structure Inferred relationship Some 2
Penile verrucous carcinoma of Buschke-Löwenstein (disorder) Finding site False Genital structure Inferred relationship Some 1
Genital tract infection in puerperium (disorder) Finding site False Genital structure Inferred relationship Some 1
Candidiasis of vulva Finding site False Genital structure Inferred relationship Some 2
Infected hydrocele Finding site False Genital structure Inferred relationship Some 2
Chronic parametritis and pelvic cellulitis Finding site False Genital structure Inferred relationship Some 2
Illegal abortion with parametritis Finding site False Genital structure Inferred relationship Some 2
Blister of testis with infection Finding site False Genital structure Inferred relationship Some 2
Infectious pustular vulvovaginitis Finding site False Genital structure Inferred relationship Some 3
Bacterial genital infection Finding site True Genital structure Inferred relationship Some 1
Salpingo-oophoritis following molar AND/OR ectopic pregnancy Finding site False Genital structure Inferred relationship Some 3
Female genital tract infection Finding site False Genital structure Inferred relationship Some 1
Illegal abortion complicated by genital-pelvic infection Finding site False Genital structure Inferred relationship Some 1
Infection of penis Finding site False Genital structure Inferred relationship Some 1
Infection and fibrosis of spermatic cord remnant (disorder) Finding site False Genital structure Inferred relationship Some 2
Infective epididymo-orchitis Finding site False Genital structure Inferred relationship Some 3
Infection of testis and epididymis Finding site False Genital structure Inferred relationship Some 1
Induced termination of pregnancy complicated by genital-pelvic infection (disorder) Finding site False Genital structure Inferred relationship Some 1
Legal abortion complicated by genital-pelvic infection Finding site False Genital structure Inferred relationship Some 1
Genital warts Finding site False Genital structure Inferred relationship Some 2
Infection of ovary Finding site False Genital structure Inferred relationship Some 1
Infection of uterus (disorder) Finding site False Genital structure Inferred relationship Some 1
Parametritis following molar AND/OR ectopic pregnancy Finding site False Genital structure Inferred relationship Some 1
Trichomonal cervicitis Finding site False Genital structure Inferred relationship Some 2
Genital tract AND/OR pelvic infection following molar AND/OR ectopic pregnancy Finding site False Genital structure Inferred relationship Some 1
Vulval verrucous carcinoma of Buschke-Löwenstein (disorder) Finding site False Genital structure Inferred relationship Some 3
Female genital infection Finding site False Genital structure Inferred relationship Some 1
Cavernitis of penis Finding site False Genital structure Inferred relationship Some 2
Blister of penis with infection Finding site False Genital structure Inferred relationship Some 2
Pelvic inflammation with female sterility caused by Chlamydia trachomatis (disorder) Finding site False Genital structure Inferred relationship Some 1
Penile cellulitis/abscess/boil Finding site False Genital structure Inferred relationship Some 1
Male genital infection Finding site False Genital structure Inferred relationship Some 1
Postpartum infection of vulva (disorder) Finding site False Genital structure Inferred relationship Some 1
Anogenital verrucous carcinoma of Buschke-Löwenstein (disorder) Finding site False Genital structure Inferred relationship Some 3
Blister of vulva with infection Finding site False Genital structure Inferred relationship Some 3
Male accessory gland infection Finding site False Genital structure Inferred relationship Some 1
Chlamydial epididymo-orchitis Finding site False Genital structure Inferred relationship Some 3
Genital tract infection due to incomplete induced termination of pregnancy (disorder) Finding site False Genital structure Inferred relationship Some 1
Infection of spermatic cord Finding site False Genital structure Inferred relationship Some 1
Genital infection Finding site True Genital structure Inferred relationship Some 1
Mumps epididymo-orchitis Finding site False Genital structure Inferred relationship Some 3
Infective vulvitis Finding site False Genital structure Inferred relationship Some 2
Tuberculous epididymo-orchitis Finding site False Genital structure Inferred relationship Some 4
Female genital tract infection due to complete miscarriage (disorder) Finding site False Genital structure Inferred relationship Some 3
Gonococcal lymphangitis of penis Finding site False Genital structure Inferred relationship Some 3
maladie inflammatoire pelvienne à Chlamydia trachomatis causant la stérilité féminine Finding site False Genital structure Inferred relationship Some 2
Granuloma gluteale infantum Finding site False Genital structure Inferred relationship Some 1
Candidiasis of vagina (disorder) Finding site False Genital structure Inferred relationship Some 2
Nodular candidiasis of diaper area Finding site False Genital structure Inferred relationship Some 1
Recurrent candidiasis of vagina Finding site False Genital structure Inferred relationship Some 1
Penile candidiasis (disorder) Finding site False Genital structure Inferred relationship Some 1
Candida infection of genital region (disorder) Finding site True Genital structure Inferred relationship Some 1
Uterine candidiasis Finding site False Genital structure Inferred relationship Some 2
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. Finding site True Genital structure Inferred relationship Some 1
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. Finding site False Genital structure Inferred relationship Some 3
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. Finding site False Genital structure Inferred relationship Some 4
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. Finding site False Genital structure Inferred relationship Some 5
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. Finding site False Genital structure Inferred relationship Some 2
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. Finding site False Genital structure Inferred relationship Some 3
chirurgie de confirmation du genre Procedure site - Direct (attribute) False Genital structure Inferred relationship Some 1
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). Finding site False Genital structure Inferred relationship Some 8
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Finding site False Genital structure Inferred relationship Some 4
Lesion of genitalia Finding site True Genital structure Inferred relationship Some 1
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. Finding site False Genital structure Inferred relationship Some 3
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Finding site True Genital structure Inferred relationship Some 2
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Finding site False Genital structure Inferred relationship Some 3
Herpetic vulvovaginitis Finding site False Genital structure Inferred relationship Some 3
Genital herpes simplex Finding site True Genital structure Inferred relationship Some 1
Herpetic ulceration of vulva (disorder) Finding site False Genital structure Inferred relationship Some 2
Herpetic cervicitis Finding site False Genital structure Inferred relationship Some 2
Herpetic vesicle in vagina Finding site False Genital structure Inferred relationship Some 3
Primary herpetic vulvovaginitis (disorder) Finding site False Genital structure Inferred relationship Some 3
Recurrent genital herpes simplex (disorder) Finding site True Genital structure Inferred relationship Some 1
Recurrent herpetic vulvovaginitis (disorder) Finding site False Genital structure Inferred relationship Some 3
Genital herpes simplex type 2 (disorder) Finding site True Genital structure Inferred relationship Some 1
Herpes simplex of female genitalia (disorder) Finding site False Genital structure Inferred relationship Some 1
Recurrent genital Herpes simplex type 1 infection (disorder) Finding site True Genital structure Inferred relationship Some 1
Recurrent genital Herpes simplex type 2 infection (disorder) Finding site True Genital structure Inferred relationship Some 1
Genital Herpes simplex type 1 infection (disorder) Finding site True Genital structure Inferred relationship Some 1
Genital herpes simplex in mother complicating pregnancy Finding site True Genital structure Inferred relationship Some 1
Genital herpes simplex in mother complicating childbirth Finding site True Genital structure Inferred relationship Some 1
Candidiasis of vagina in pregnancy (disorder) Finding site False Genital structure Inferred relationship Some 3
Pseudovaginal perineoscrotal hypospadias Finding site False Genital structure Inferred relationship Some 4
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. Finding site False Genital structure Inferred relationship Some 1
Primary herpes simplex infection of genitalia (disorder) Finding site True Genital structure Inferred relationship Some 1
Genital mycoplasma infection Finding site True Genital structure Inferred relationship Some 1
Genital tuberculosis Finding site True Genital structure Inferred relationship Some 1
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. Finding site True Genital structure Inferred relationship Some 1
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. Finding site True Genital structure Inferred relationship Some 1
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. Finding site True Genital structure Inferred relationship Some 2
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. Finding site True Genital structure Inferred relationship Some 1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Finding site True Genital structure Inferred relationship Some 1
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. Finding site True Genital structure Inferred relationship Some 1
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). Finding site True Genital structure Inferred relationship Some 4
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Finding site True Genital structure Inferred relationship Some 2
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. Finding site True Genital structure Inferred relationship Some 1
Pathogen-negative nonspecific genital infection Finding site True Genital structure Inferred relationship Some 1

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Anatomy structure and entire association reference set (foundation metadata concept)

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