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205681004: Gonadal dysgenesis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315432016 Gonadal dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591083017 Gonadal dysgenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3005431000005110 gonadal dysgenese da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gonadal dysgenesis	Is a	Disorder of endocrine gonad	false	Inferred relationship	Some
Gonadal dysgenesis	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Gonadal dysgenesis	Associated morphology	kongenit udviklingsanomali	false	Inferred relationship	Some	1
Gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Some	1
Gonadal dysgenesis	Is a	Disorder of reproductive system	false	Inferred relationship	Some
Gonadal dysgenesis	Is a	Genital finding	false	Inferred relationship	Some
Gonadal dysgenesis	Associated morphology	kongenit udviklingsanomali	false	Inferred relationship	Some	1
Gonadal dysgenesis	Finding site	Gonadal structure	true	Inferred relationship	Some	1
Gonadal dysgenesis	Occurrence	Congenital	false	Inferred relationship	Some	2
Gonadal dysgenesis	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Some	2
Gonadal dysgenesis	Is a	Congenital malformation of genital organs	true	Inferred relationship	Some
Gonadal dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Gonadal dysgenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Gonadal dysgenesis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mixed gonadal dysgenesis	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Other gonadal dysgenesis phenotype NOS	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Gonadal dysgenesis NOS	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Ovarian dysgenesis	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Testicular regression syndrome	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Congenital anomaly of ovary	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Pure gonadal dysgenesis	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital anomaly of testis	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital anomaly of endocrine gonad (disorder)	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital absence of gonads	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Congenital hypoplasia of gonad	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Accessory gonad	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Splenogonadal fusion	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
Male pseudohermaphroditism	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
Ovotestis	Is a	False	Gonadal dysgenesis	Inferred relationship	Some
An autosomal recessive disorder with characteristics of ocular and neurodevelopmental defects and micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families.	Is a	True	Gonadal dysgenesis	Inferred relationship	Some
A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH).	Is a	True	Gonadal dysgenesis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315432016	Gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591083017	Gonadal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005431000005110	gonadal dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)