ORPHA:443101
Hypothalamic adipsic hypernatraemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypothalamic adipsic hypernatraemia syndrome | |
| fr | Syndrome d'hypernatrémie adipsique hypothalamique | |
| de | Hypothalamisches Adipsie-Hypernatriämie-Syndrom | |
| es | Síndrome de hipernatremia adípsica hipotalámica | |
| it | Ipernatriemia adipsica ipotalamica | |
| nl | Hypothalamische adipsische hypernatriëmie-syndroom | |
| pt | Síndrome de hipernatrémia adipsica hipotalâmica | |
| pl | Zespół podwzgórzowej hipernatremii z adypsją | |
| cs | Syndrom hypotalamické adipsické hypernatrémie | |
| uk | Синдром гіпоталамічної адипінової гіпернатріємії | |
| zh | 下丘脑脂肪性高钠血症综合征 | |
| tr | Hipotalamik adipsik hipernatremi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E23.3 | NTBT | attributed | validated |
| ICD-11 | 5A61.Y | NTBT | attributed | validated |
| MONDO | 0018620 | E | validated | |
| UMLS | C5681196 | 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:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:181384Rare hypothalamic or pituitary disease
rare endocrine diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/443101
- This record as JSON: /data/d/443101.json