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304041004: Gonadal endocrine 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
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

23 descendants. Search Descendants:

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 Part of 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 (qualifier value) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Testicular lesion in androgen insensitivity syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 2
Mild androgen insensitivity syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 2
Infertile male syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 2
Stromal cell hyperplasia in androgen insensitivity syndrome 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 True Gonadal endocrine structure Inferred relationship Some 2
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 True Gonadal endocrine structure Inferred relationship Some 2
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. Finding site True Gonadal endocrine structure Inferred relationship Some 5
Odontoleukodystrophy (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 6
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 7
Male sexual precocity with adrenal hyperplasia (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. Finding site True Gonadal endocrine structure Inferred relationship Some 4
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behavior problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed. Finding site True Gonadal endocrine structure Inferred relationship Some 2
A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weight gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome. Finding site True Gonadal endocrine structure Inferred relationship Some 2
Ovotesticular disorder of sex development Finding site True Gonadal endocrine structure Inferred relationship Some 1
A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. Finding site True Gonadal endocrine structure Inferred relationship Some 1
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 True Gonadal endocrine structure Inferred relationship Some 1
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. Finding site True Gonadal endocrine structure Inferred relationship Some 1
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Finding site True Gonadal endocrine structure Inferred relationship Some 1
Stromal cell hyperplasia in androgen insensitivity syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 2
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Finding site True Gonadal endocrine structure Inferred relationship Some 2
Peripheral precocious puberty due to hyperandrogenism (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Peripheral precocious puberty due to hyperoestrogenism Finding site True Gonadal endocrine structure Inferred relationship Some 1
Peripheral precocious puberty due to testicular hyperfunction Finding site True Gonadal endocrine structure Inferred relationship Some 1
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism. Finding site True Gonadal endocrine structure Inferred relationship Some 2
Type 2A juvenile hereditary hemochromatosis (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Type 2B juvenile hereditary hemochromatosis Finding site True Gonadal endocrine structure Inferred relationship Some 2

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

GB English

US English

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