43174007: Gonadal structure (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Gonadal 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

72030011 Gonad en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493544014 Gonadal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780155012 Gonadal structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gonadal structure	Is a	Genital structure	true	Inferred relationship	Some
Gonadal structure	partie de	Entire genital system	false	Additional relationship	Some
Gonadal structure	Laterality	Side (qualifier value)	true	Inferred relationship	Some
Gonadal structure	Is a	An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).	true	Inferred relationship	Some
Gonadal structure	Is a	Structure of half of trunk lateral to midsagittal plane (body structure)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gonadal endocrine structure	Is a	True	Gonadal structure	Inferred relationship	Some
Entire gonad	Is a	True	Gonadal structure	Inferred relationship	Some
Ovarian structure	Is a	True	Gonadal structure	Inferred relationship	Some
Testis structure	Is a	True	Gonadal structure	Inferred relationship	Some
Male pseudohermaphroditism	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Celiac infantilism	Finding site	False	Gonadal structure	Inferred relationship	Some
Infantilism	Finding site	False	Gonadal structure	Inferred relationship	Some
Splenogonadal fusion	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Streak gonad	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Accessory gonad	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Congenital absence of gonads	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Congenital hypoplasia of gonad	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XX	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Finding site	False	Gonadal structure	Inferred relationship	Some	2
Pure gonadal dysgenesis	Finding site	True	Gonadal structure	Inferred relationship	Some	1
maladie cœliaque congénitale	Finding site	False	Gonadal structure	Inferred relationship	Some
Cholesterol monooxygenase (side-chain cleaving) deficiency	Finding site	False	Gonadal structure	Inferred relationship	Some	2
17 alpha-Hydroxyprogesterone aldolase deficiency	Finding site	False	Gonadal structure	Inferred relationship	Some	3
Gonad tissue	Specimen source topography	True	Gonadal structure	Inferred relationship	Some	1
Gonad specimen (specimen)	Specimen source topography	True	Gonadal structure	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	False	Gonadal structure	Inferred relationship	Some	3
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Gonadal dysgenesis	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Other gonadal dysgenesis phenotype NOS	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Gonadal dysgenesis NOS	Finding site	False	Gonadal structure	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	False	Gonadal structure	Inferred relationship	Some	3
Congenital hypoplasia of gonad	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Accessory gonad	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Other gonadal dysgenesis phenotype NOS	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Congenital absence of gonads	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Male pseudohermaphroditism	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Gonadal dysgenesis NOS	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Gonadal dysgenesis	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Streak gonad	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Splenogonadal fusion	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Finding site	False	Gonadal structure	Inferred relationship	Some	2
Pure gonadal dysgenesis	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Gonad tissue	Specimen source topography	False	Gonadal structure	Inferred relationship	Some	1
Gonadal dysgenesis	Finding site	False	Gonadal structure	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Finding site	False	Gonadal structure	Inferred relationship	Some	3
Pure gonadal dysgenesis	Finding site	False	Gonadal structure	Inferred relationship	Some	3
Congenital absence of gonads	Finding site	False	Gonadal structure	Inferred relationship	Some	2
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Finding site	False	Gonadal structure	Inferred relationship	Some	2
Congenital hypoplasia of gonad	Finding site	False	Gonadal structure	Inferred relationship	Some	2
Accessory gonad	Finding site	False	Gonadal structure	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Splenogonadal fusion	Finding site	False	Gonadal structure	Inferred relationship	Some	3
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Finding site	False	Gonadal structure	Inferred relationship	Some	4
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.	Finding site	False	Gonadal structure	Inferred relationship	Some	3
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	Finding site	False	Gonadal structure	Inferred relationship	Some	4
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.	Finding site	False	Gonadal structure	Inferred relationship	Some	5
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Finding site	False	Gonadal structure	Inferred relationship	Some	6
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.	Finding site	False	Gonadal structure	Inferred relationship	Some	4
Pseudovaginal perineoscrotal hypospadias	Finding site	False	Gonadal structure	Inferred relationship	Some	3
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Finding site	True	Gonadal structure	Inferred relationship	Some	1
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Finding site	False	Gonadal structure	Inferred relationship	Some	3
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Pseudovaginal perineoscrotal hypospadias	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Reifenstein syndrome	Finding site	False	Gonadal structure	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	False	Gonadal structure	Inferred relationship	Some	2
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.	Finding site	True	Gonadal structure	Inferred relationship	Some	2
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.	Finding site	True	Gonadal structure	Inferred relationship	Some	2
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.	Finding site	True	Gonadal structure	Inferred relationship	Some	2
Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre	Finding site	False	Gonadal structure	Inferred relationship	Some	1
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	Finding site	True	Gonadal structure	Inferred relationship	Some	3
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Finding site	True	Gonadal structure	Inferred relationship	Some	1
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Excision of ovotestis (procedure)	Procedure site - Direct (attribute)	True	Gonadal structure	Inferred relationship	Some	1
Structure of left gonad	Is a	True	Gonadal structure	Inferred relationship	Some
Structure of right gonad	Is a	True	Gonadal structure	Inferred relationship	Some
Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.	Finding site	True	Gonadal structure	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	True	Gonadal structure	Inferred relationship	Some	2
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Finding site	True	Gonadal structure	Inferred relationship	Some	2

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

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Id	Description	Lang	Type	Status	Case?	Module
72030011	Gonad	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493544014	Gonadal structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780155012	Gonadal structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core