FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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 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
Reifenstein syndrome 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
Reifenstein syndrome 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
Complete androgen insensitivity syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Partial androgen insensitivity syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
X-linked intellectual disability Cilliers type (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Syndromic X-linked intellectual disability type 7 (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) 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
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 3
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Kallman syndrome with heart disease (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 5
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 3
Congenital hypogonadotropic hypogonadism (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 5
46,XY partial gonadal dysgenesis (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) 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 with precocious puberty syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 4
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) 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 with infantile cataract and hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
X-linked intellectual disability Van Esch type (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
X-linked intellectual disability Cilliers type (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Syndromic X-linked intellectual disability type 7 (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) 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
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Hydrocephalus with obesity and hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 1
Kallman syndrome with heart disease (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 3
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 3
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 2
Deafness and hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) 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 Finding site True Gonadal endocrine structure Inferred relationship Some 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Finding site False Gonadal endocrine structure Inferred relationship Some 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 1
Prader-Willi-like syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 3
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 3
Congenital cataract with deafness and hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 3
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 3
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 3
McCune Albright syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Some 4
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) 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
Obesity due to leptin receptor gene deficiency Finding site True Gonadal endocrine structure Inferred relationship Some 1
Hyperandrogenism due to cortisone reductase deficiency Finding site True Gonadal endocrine structure Inferred relationship Some 2
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) 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 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 with precocious puberty syndrome (disorder) 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
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Some 5
6q16 microdeletion syndrome Finding site True Gonadal endocrine structure Inferred relationship Some 4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) 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

Start Page 2 of 3 End

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

GB English

US English

Back to Start