Preferred Label : Hydrops fetalis, nonimmune;
Symbol : NIHF;
CISMeF acronym : NIHF;
Type : Phenotype, molecular basis known;
Description : Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid
accumulation in extravascular components and body cavities. It is not a diagnosis
in itself, but a symptom and end-stage result of a wide variety of disorders. In the
case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as
in that related to a number of genetic anemias and metabolic disorders expressed in
the fetus; in other instances, it remains idiopathic and likely multifactorial (summary
by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all
described cases of hydrops fetalis (Bellini et al., 2009). - Genetic Heterogeneity
of Hydrops Fetalis In southeast Asia, alpha-thalassemia is the most common cause of
hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result
from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases
have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin
H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic
disorders predisposing to NIHF include other congenital anemias, such as erythropoietic
porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher
disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis
type VII (253220), glycogen storage disease IV (232500), and congenital disorder of
glycosylation type Ia (212065).;
Inheritance : Multifactorial;
Prefixed ID : #236750;
Origin ID : 236750;
UMLS CUI : C0455988;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
