loading...| Preferred Name | primary ovarian insufficiency | |
| Synonyms |
hypergonadotropic hypogonadism female hypergonadotropic hypogonadism premature menopause primary female hypogonadism hypergonadotrophic ovarian failure premature ovarian failure hypergonadotropic hypogonadism (female) premature ovarian insufficiency primary ovarian failure resistant ovary syndrome primary ovarian insufficiency |
|
| Definitions |
Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0004266 |
|
| database_cross_reference |
SNOMEDCT:80956002 MESH:D016649 UMLS:C0085215 OMIM:611548 OMIM:311360 OMIM:300511 OMIM:608996 SCTID:65846009 OMIM:300604 SNOMEDCT:237788002 SCTID:370999003 Orphanet:619 OMIM:613291 MedDRA:10036602 NANDO:2100139 OMIM:612885 MeSH:D016649 MONDO:0005387 NCIT:C113352 OMIM:612964 OMIM:615724 OMIM:615723 OMIM:616946 OMIM:616947 ICD10CM:E28.3 ICD9:256.39 OMIM:612310 MEDGEN:38820 DOID:5426 ICD9:253.4 |
|
| definition |
Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. |
|
| gwas_trait |
true |
|
| has_exact_synonym |
primary ovarian failure resistant ovary syndrome premature ovarian failure primary ovarian insufficiency |
|
| has_related_synonym |
hypergonadotropic hypogonadism female hypergonadotropic hypogonadism premature menopause primary female hypogonadism hypergonadotrophic ovarian failure premature ovarian failure hypergonadotropic hypogonadism (female) premature ovarian insufficiency |
|
| id |
EFO:0004266 |
|
| in_subset | ||
| label |
primary ovarian insufficiency |
|
| notation |
EFO:0004266 |
|
| preferred label |
primary ovarian insufficiency |
|
| prefLabel |
primary ovarian insufficiency |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0085215 http://purl.bioontology.org/ontology/ICD10CM/E28.3 http://identifiers.org/snomedct/65846009 http://identifiers.org/snomedct/370999003 http://identifiers.org/medgen/38820 http://purl.obolibrary.org/obo/NCIT_C113352 http://purl.obolibrary.org/obo/EFO_0004266 |
|
| term editor |
Dani Welter |
|
| subClassOf |