304041004: Gonadal endocrine structure (body structure)

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

\Gland structure (body structure)\Endocrine gland structure (body structure)\Gonadal endocrine 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\Gonadal endocrine structure

\Body system structure\Structure of subdivision of organ system (body structure)\Structure of genitourinary system subdivision\Structure of anatomical reproductive system (body structure)\Genital structure\Gonadal structure\Gonadal endocrine structure
\Body system structure\Structure of breast and/or endocrine system (body structure)\Structure of endocrine system (body structure)\Endocrine gland structure (body structure)\Gonadal endocrine structure
\Body system structure\Structure of genitourinary system (body structure)\Structure of genitourinary system subdivision\Structure of anatomical reproductive system (body structure)\Genital structure\Gonadal structure\Gonadal endocrine structure

Status: current, Not 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
Gonadal endocrine structure	Is a	Gonadal structure	true	Inferred relationship	Some
Gonadal endocrine structure	Is a	Structure of endocrine system (body structure)	false	Inferred relationship	Some
Gonadal endocrine structure	del af	Entire genital system	false	Additional relationship	Some
Gonadal endocrine structure	Is a	Endocrine gland structure (body structure)	true	Inferred relationship	Some
Gonadal endocrine structure	Laterality	Side	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of sexual differentiation	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Reifensteins syndrom	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
Reifensteins syndrom	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
Undervirilization of male due to steroidogenic acute regulatory protein deficiency (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Virilization of female due to SRY gene translocation (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Virilization of female due to SOX9 gene duplication (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	3
A form of androgen insensitivity syndrome (AIS) characterised by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. The condition is due to mutations in the androgen receptor (AR) gene which is located on the long arm of the X-chromosome (Xq11-12). The AR is a nuclear transcription factor comprising three functional domains. Mutations are distributed throughout the gene, predominantly in 5 of the 8 exons that code for the ligand binding domain. The CAIS phenotype is associated with an AR mutation that completely disrupts AR function. The condition is X-linked recessive.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
X-linked intellectual disability with precocious puberty and obesity syndrome	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	3
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	5
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	3
Congenital hypogonadotropic hypogonadism (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	5
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	7
A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	6
Puberty disorder due to estrogen resistance (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
McCune Albright syndrome (disorder)	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	5
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	4
A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	4
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	4
Hypogonadism with anosmia	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Hypogonadism with prune belly syndrome	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	2
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	3
X-linked intellectual disability with precocious puberty and obesity syndrome	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	2
A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	6
Peripheral precocious puberty (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	2
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	3
McCune Albright syndrome (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	4
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	5
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
Ovotestis	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	1
Prader-Willi syndrome	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	1
Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
Precocious pubarche	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	3
McCune Albright syndrome (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	4
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.	Finding site	False	Gonadal endocrine structure	Inferred relationship	Some	3
Premature puberty due to hypothyroidism	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
Functional hypogonadotropic hypogonadism (disorder)	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	5
6q16 microdeletion syndrome	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	4
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	5
Progressive cerebellar ataxia with hypogonadism	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	4
Testicular lesion in androgen insensitivity syndrome	Finding site	True	Gonadal endocrine structure	Inferred relationship	Some	2

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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
446287015	Gonadal endocrine structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
700298018	Gonadal endocrine structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1227234014	Genital endocrine structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2646858010	Endocrine gonad	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2804061000005119	Endokrin struktur i gonade	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)