287085006: Genitourinary congenital anomalies (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
\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genitourinary congenital anomalies	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Genitourinary congenital anomalies	Is a	Disorder of the genitourinary system (disorder)	true	Inferred relationship	Some
Genitourinary congenital anomalies	Finding site	Structure of genitourinary system (body structure)	false	Inferred relationship	Some	1
Genitourinary congenital anomalies	Occurrence	Congenital	false	Inferred relationship	Some
Genitourinary congenital anomalies	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Some
Genitourinary congenital anomalies	Finding site	Trunk structure (body structure)	false	Inferred relationship	Some
Genitourinary congenital anomalies	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Genitourinary congenital anomalies	Is a	Congenital anomaly of the pelvis	false	Inferred relationship	Some
Genitourinary congenital anomalies	Occurrence	Congenital	false	Inferred relationship	Some
Genitourinary congenital anomalies	Finding site	Structure of genitourinary system (body structure)	true	Inferred relationship	Some	1
Genitourinary congenital anomalies	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Genitourinary congenital anomalies	Is a	Congenital anomaly of lower trunk	true	Inferred relationship	Some
Genitourinary congenital anomalies	Occurrence	Congenital	false	Inferred relationship	Some	2
Genitourinary congenital anomalies	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Genitourinary congenital anomalies	Finding site	Structure of genitourinary system (body structure)	false	Inferred relationship	Some	2
Genitourinary congenital anomalies	Occurrence	Congenital	true	Inferred relationship	Some	1
Genitourinary congenital anomalies	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Genitourinary congenital anomalies	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation of genital organs	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital anomaly of the urinary system	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Genitourinary anomalies NOS	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
FH: Congenital GU anomaly	Associated finding	False	Genitourinary congenital anomalies	Inferred relationship	Some	1
Congenital anomaly of genital system	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital anourethral fistula	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital rectourethral fistula	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Persistent cloaca (disorder)	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital obstruction of neck of urinary bladder	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital anomaly of genital system	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital female urogenital anomaly (disorder)	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital anomaly of male urogenital tract (disorder)	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
FH: Congenital GU anomaly	Associated finding	True	Genitourinary congenital anomalies	Inferred relationship	Some	1
FH: Congenital GU anomaly	Associated finding	False	Genitourinary congenital anomalies	Inferred relationship	Some	1
Congenital malformation of the urinary system (disorder)	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Congenital malformation of genital organs	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Prune belly syndrome	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Acropectororenal dysplasia	Is a	False	Genitourinary congenital anomalies	Inferred relationship	Some
Cardiomyopathy and renal anomaly syndrome (disorder)	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Hand-foot-genital syndrome	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	Is a	True	Genitourinary congenital anomalies	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
426597016	Genitourinary congenital anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
426598014	Congenital urogenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
681274018	Genitourinary congenital anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3391224015	anomalies congénitales génito-urinaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436951001000116	Urogenitale Fehlbildungen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module