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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
446287015 Gonadal endocrine structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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 Existential restriction modifier (core metadata concept)
Gonadal endocrine structure Is a Structure of endocrine system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Gonadal endocrine structure partie de Entire genital system (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Gonadal endocrine structure Is a Endocrine gland structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Gonadal endocrine structure Laterality Side true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Disorder of sexual differentiation Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Reifenstein syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed gonadal dysgenesis Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of endocrine gonad (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Reifenstein syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of endocrine gonad (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed gonadal dysgenesis Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Undervirilization of male due to steroidogenic acute regulatory protein deficiency (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Virilisation of female due to SRY gene translocation Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Virilisation of female due to SOX9 gene duplication Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hyperandrogenism due to non-classic 21-hydroxylase deficiency Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed gonadal dysgenesis Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of endocrine gonad (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Mixed gonadal dysgenesis Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete androgen insensitivity syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial androgen insensitivity syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Van Esch type (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cilliers type (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with precocious puberty and obesity syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with obesity and hypogonadism syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Scholte syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 5
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypogonadotropic hypogonadism (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 5
46,XY partial gonadal dysgenesis Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Puberty disorder due to estrogen resistance (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia with precocious puberty syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypogonadism with anosmia Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypogonadism with prune belly syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Van Esch type (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Cilliers type (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndromic X-linked intellectual disability type 7 (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with precocious puberty and obesity syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus with obesity and hypogonadism syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Scholte syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Kallman syndrome with heart disease Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Boucher Neuhäuser syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness and hypogonadism syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 6
Peripheral precocious puberty (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, myopathy, short stature, endocrine defect syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Prader-Willi-like syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract with deafness and hypogonadism syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Scholte syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 5
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Hyperandrogenism due to cortisone reductase deficiency Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Prader-Willi syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Woodhouse Sakati syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Precocious pubarche Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia with precocious puberty syndrome Finding site False Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Premature puberty due to hypothyroidism Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Functional hypogonadotropic hypogonadism (disorder) Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Boucher Neuhäuser syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 5
6q16 microdeletion syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Progressive cerebellar ataxia with hypogonadism Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Testicular lesion in androgen insensitivity syndrome Finding site True Gonadal endocrine structure Inferred relationship Existential restriction modifier (core metadata concept) 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)

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