Hydrops fetalis
Synonyms: Fetal anasarca · Fetal hydrops · Generalized fetal edema · HF
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrops fetalis | Fetal anasarca · Fetal hydrops · Generalized fetal edema · HF |
| fr | Anasarque foetoplacentaire | Anasarque foetale · HF · Hydrops fetalis · Hydrops foeto-placentaire · Hydrops foetoplacentaire |
| de | Hydrops fetalis | HF · Ödem, fetales generalisiertes |
| es | Hidropesía fetal | Anasarca fetal · Edema fetal generalizado · HF · Hidrops fetal |
| it | Idrope fetale | Anasarca fetale · Edema fetale generalizzato · HF · Idropisia fetale |
| nl | Hydrops foetalis | Foetale anasarca · Foetale hydrops · Gegeneraliseerd foetaal oedeem · HF |
| pt | Hidrópsia fetal | Edema fetal |
| pl | Obrzęk płodu | HF · Obrzęk uogólniony płodu · Wodniak płodu |
| cs | Hydrops plodu | Hydrops fetalis · Fetální anasarka · Fetální hydrops · Generalizovaný fetální edém · HF |
| uk | Водянка плоду | Анасарка плода · Fetal hydrops · Генералізований набряк плода · HF |
| zh | 胎儿水肿 | 全身胎儿水肿 |
| tr | Hidrops fetalis | HF · fetal hidrops · fetal anasarca · Jeneralize fetal ödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236750 | BTNT | validated | |
| ICD-10 | P56.0 | BTNT | specific | validated |
| ICD-10 | P56.9 | BTNT | specific | validated |
| ICD-10 | P83.2 | BTNT | specific | validated |
| ICD-11 | KA85 | BTNT | specific | validated |
| ICD-11 | KA85.0 | BTNT | specific | validated |
| ICD-11 | KA85.Y | BTNT | specific | validated |
| ICD-11 | KC41.1 | BTNT | specific | validated |
| MONDO | 0015193 | E | validated | |
| MeSH | D015160 | E | validated | |
| UMLS | C0020305 | E | validated | |
| GARD | 2783 | E | validated | |
| MedDRA | 10020529 | 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 (1):
- ORPHA:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ANGPT2 | ORPHA:363999Non-immune hydrops fetalis | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:485 | ENSG00000091879 | 601922 | 8p23.1 | angiopoietin 2 | 34876502[PMID] |
| CALCRL | ORPHA:363999Non-immune hydrops fetalis | Disease-causing germline mutation(s) in | Assessed | HGNC:16709 | ENSG00000064989 | 114190 | 2q32.1 | calcitonin receptor like receptor | 30115739[PMID] |
| THSD1 | ORPHA:363999Non-immune hydrops fetalis | Disease-causing germline mutation(s) in | Assessed | HGNC:17754 | ENSG00000136114 | 616821 | 13q14.3 | thrombospondin type 1 domain containing 1 | 30055085[PMID] |
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 134 / 100 000 | Ireland | Value and class | Validated | 16964808[PMID] |
| Prevalence at birth | >1 / 1000 | 380 / 100 000 | Turkey | Value and class | Validated | 24094760[PMID] |
| Prevalence at birth | >1 / 1000 | 180 / 100 000 | Thailand | Value and class | Validated | 19459517[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
24 annotations · validated 2021-07-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000464 | Abnormality of the neck | |
| HP:0001541 | Ascites | |
| HP:0030005 | Capillary leak | |
| HP:0032548 | Increased placental thickness | |
| HP:0001790 | Nonimmune hydrops fetalis | |
| HP:0001518 | Small for gestational age | |
| HP:0005268 | Spontaneous abortion | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0007430 | Generalized edema | |
| HP:0001004 | Lymphedema | |
| HP:0001698 | Pericardial effusion | |
| HP:0002202 | Pleural effusion | |
| HP:0001561 | Polyhydramnios | |
| HP:0032169 | Severe infection | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0011675 | Arrhythmia | |
| HP:0002664 | Neoplasm | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0031110 | Twin-to-twin transfusion | |
Annotation source: 29500832[PMID]_31512356[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1041
- This record as JSON: /data/d/1041.json