Non-immune hydrops fetalis
Synonyms: Non-immune HF · Non-immune fetal edema · Non-immune fetal hydrops · NIHF
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-immune hydrops fetalis | Non-immune HF · Non-immune fetal edema · Non-immune fetal hydrops · NIHF |
| fr | Anasarque foetoplacentaire non immunologique | Anasarque foetale non immunologique · HF non immunologique · Hydrops fetalis non immunologique · Hydrops foetoplacentaire non immunologique |
| de | Hydrops fetalis, nicht-immunologischer | NIHF · Nicht-immunologischer fetaler Hydrops · Nicht-immunologisches fetales Ödem |
| es | Hidropesía fetal no inmunológica | Edema fetal no inmunitario · HF no inmunitaria · Hidrops fetal no inmunológico · NIHF |
| it | Idrope fetale non immune | Edema fetale non immune · HF non immune · Idropisia fetale non immune |
| nl | Niet-immune hydrops foetalis | NIHF · Niet-immune HF · Niet-immune foetale hydrops · Niet-immuun foetaal oedeem |
| pt | Hidropsia fetal não-imune | |
| pl | Nieimmunologiczny obrzęk płodu | Nieimmunologiczny HF |
| cs | Neimunitní hydrops fetalis | Neimunitní HF · Neimunitní fetální edém · Neimunitní fetální hydrops |
| uk | Неімунна водянка плода | NIHF · Неімунний набряк плода · Неімунна водянка плода · Неімунна ВП |
| zh | 非免疫性胎儿水肿 | 非免疫性胎儿水肿 |
| tr | İmmün olmayan hidrops fetalis | NIHF · İmmun olmayan HF · İmmun olmayan fetal ödem · İmmun olmayan fetal hidrops |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236750 | BTNT | validated | |
| OMIM | 618773 | BTNT | validated | |
| OMIM | 619369 | BTNT | validated | |
| OMIM | 620244 | BTNT | validated | |
| ICD-10 | P83.2 | E | specific | validated |
| ICD-11 | KC41.1 | E | specific | validated |
| MONDO | 0009369 | E | validated | |
| UMLS | C0455988 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:1041Hydrops fetalis
rare developmental anomalies during embryogenesis - ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:89845OBSOLETE: Idiopathic hydrops fetalis referred to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANGPT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:485 | ENSG00000091879 | 601922 | 8p23.1 | angiopoietin 2 | 34876502[PMID] |
| CALCRL | Disease-causing germline mutation(s) in | Assessed | HGNC:16709 | ENSG00000064989 | 114190 | 2q32.1 | calcitonin receptor like receptor | 30115739[PMID] |
| THSD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17754 | ENSG00000136114 | 616821 | 13q14.3 | thrombospondin type 1 domain containing 1 | 30055085[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 42 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | >1 / 1000 | 300 / 100 000 | Thailand | Value and class | Validated | 9280003[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363999
- This record as JSON: /data/d/363999.json