FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

48130008: Hypogonadism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
80201014 Hypogonadism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
785664015 Hypogonadism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1826931000195118 ipogonadismo it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
404871000172111 hypogonadisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

105 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypogonadism Is a Disorder of the genitourinary system (disorder) false Inferred relationship Some
Hypogonadism Is a Disorder of endocrine gonad true Inferred relationship Some
Hypogonadism Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Hypogonadism Has definitional manifestation Decreased hormone secretion false Inferred relationship Some
Hypogonadism Finding site Gonadal endocrine structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Postablative ovarian failure Is a False Hypogonadism Inferred relationship Some
Postablative testicular hypofunction Is a False Hypogonadism Inferred relationship Some
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques Is a False Hypogonadism Inferred relationship Some
Ovarian failure Is a False Hypogonadism Inferred relationship Some
A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Is a False Hypogonadism Inferred relationship Some
Female hypogonadism syndrome Is a True Hypogonadism Inferred relationship Some
Hypogonadotropic hypogonadism Is a True Hypogonadism Inferred relationship Some
Male hypogonadism (disorder) Is a True Hypogonadism Inferred relationship Some
Primary hypogonadism Is a False Hypogonadism Inferred relationship Some
Secondary ovarian failure Is a False Hypogonadism Inferred relationship Some
Bilateral atrophy of testes Is a False Hypogonadism Inferred relationship Some
Hypogonadal obesity Is a True Hypogonadism Inferred relationship Some
Infantilism Is a False Hypogonadism Inferred relationship Some
Hypogonadism with anosmia Is a False Hypogonadism Inferred relationship Some
Gonad postablative failure Is a True Hypogonadism Inferred relationship Some
Primary hypogonadism (disorder) Is a True Hypogonadism Inferred relationship Some
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. Is a True Hypogonadism 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. Is a False Hypogonadism 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. Is a True Hypogonadism 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. Is a True Hypogonadism Inferred relationship Some
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. Is a True Hypogonadism 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. Is a True Hypogonadism Inferred relationship Some
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. Is a True Hypogonadism Inferred relationship Some
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. Is a True Hypogonadism Inferred relationship Some
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. Is a True Hypogonadism Inferred relationship Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism. Is a True Hypogonadism Inferred relationship Some

This concept is not in any reference sets

Back to Start