ORPHA:181390
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature | |
| fr | Endocrinopathie avec hypogonadisme hypogonadotrope congénital comme manifestation majeure | |
| de | Endokrinopathie mit kongenitalen hypogonadotropen Hypogonadismus als Hauptmerkmal | |
| es | Endocrinopatía con hipogonadismo hipogonadotrópico congénito como característica principal | |
| it | Ipogonadismo ipogonadotropo associato ad altre endocrinopatie | |
| nl | Endocrinopathie met congenitaal hypogonadotroop hypogonadisme als hoofdkenmerk | |
| pt | Endocrinopatia com hipogonadismo hipogondatrópico como característica principal | |
| pl | Hipogonadyzm hipogonadotropowy związany z innymi endokrynopatiami | |
| cs | Hypogonadotropní hypogonadismus asociovaný s jinými endokrinopatiemi | |
| uk | Ендокринопатія з вродженим гіпогонадотропним гіпогонадизмом як основною ознакою | |
| zh | 促性腺素性功能减退症伴其他内分泌疾病 | |
| tr | Diğer endokrinopatilerle -ilişkili hipogonadotropik hipogonadizm |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15891 | E | validated | |
| UMLS | C5680475 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:174590Congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:399839Rare female infertility due to a congenital hypogonadotropic hypogonadism
rare genetic diseases; rare infertility disorders
Children (7):
- ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
- ORPHA:95700Familial adrenal hypoplasia with absent pituitary luteinizing hormone
- ORPHA:90695Non-acquired panhypopituitarism
- ORPHA:66628Obesity due to congenital leptin deficiency
- ORPHA:179494Obesity due to leptin receptor gene deficiency
- ORPHA:71528Obesity due to prohormone convertase I deficiency
- ORPHA:95702X-linked adrenal hypoplasia congenita
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/181390
- This record as JSON: /data/d/181390.json