Diaphragmatic hernia, congenital

Preferred Label : Diaphragmatic hernia, congenital;

CISMeF acronym : CDH; DIH; DIH1; HCD;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Hernia, congenital diaphragmatic; Diaphragmatic defect, congenital; Diaphragm, unilateral agenesis of; Hemidiaphragm, agenesis of; DIH; HCD; CDH;

Included titles and symbols : Diaphragmatic hernia 1; Diaphragm, complete agenesis of; DIH1;

Description : Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate (Langham et al., 1996; Harrison et al., 1994; Nobuhara et al., 1996). Most cases of congenital diaphragmatic hernia are sporadic. - Genetic Heterogeneity of Diaphragmatic Hernia One form of congenital diaphragmatic hernia, DIH1, has been mapped to chromosome 15q26, and another, DIH2 (222400), to chromosome 8p23.1. See also DIH3 (610187), which is associated with mutation in the ZFPM2 gene (603693). There is evidence for further genetic heterogeneity. Also see 306950 for a possible X-linked form. Congenital diaphragmatic hernia can also present with other congenital anomalies. Fryns syndrome (229850) may be the most common autosomal recessive syndrome with DIH as a cardinal feature (Slavotinek et al., 2005). See Holder et al. (2007) for a review of genetic factors in congenital diaphragmatic hernia. Pober (2008) reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations.;

Inheritance : Multifactorial; ? some autosomal recessive cases;

Prefixed ID : %142340;

Details

Origin ID

142340;

UMLS CUI

C0235833;

Automatic exact mappings (from CISMeF team)
- Choline Dehydrogenase, Mitochondrial [NCIt concept]
- Heavy Chain Disease [NCIt concept]
- Neutral Ceramidase [NCIt concept]
- PAX3 wt Allele [NCIt concept]
- Structural developmental anomalies of diaphragm [ICD-11 Category]
- diaphragm, complete agenesis of [MeSH concept]
- diaphragm, complete agenesis of [MeSH Supplementary Concept]
- diaphragmatic hernia 1 [MeSH concept]
- diaphragmatic hernia 1 [MeSH Supplementary Concept]
- hernia [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Congenital Diaphragmatic Hernia [NCIt concept]
- Congenital diaphragmatic hernia [PASCAL descriptor]
- Congenital diaphragmatic hernia [ICD-10 Sub-category]
- Congenital diaphragmatic hernia [ICD-11 Subcategory]
- Congenital diaphragmatic hernia [ICD-10 Sub-category (who)]
- Congenital diaphragmatic hernia [HPO term]
- Congenital diaphragmatic hernia [MedDRA Preferred Term]
- Congenital diaphragmatic hernia [ORDO Disease]
- Congenital diaphragmatic hernia (disorder) [SNOMED CT concept]
- DIAPHRAGMATIC HERNIA CONGENITAL [WHO-ART Included Term]
- Diaphragmatic hernia congenital [MedDRA LLT]
- HIATUS HERNIA [WHO-ART Included Term]
- Hernias, Diaphragmatic, Congenital [MeSH Descriptor]
- Hernias, Diaphragmatic, Congenital [MeSH concept]
- congenital diaphragmatic hernia [DO Concept]
- congenital diaphragmatic hernia [Disease (Nov.)]
- congenital diaphragmatic hernia [Radlex concept]
- congenital diaphragmatic hernia, nos [SNOMED Notion]
DO Cross reference
- congenital diaphragmatic hernia [DO Concept]
False automatic mappings
- Dehydroepiandrosterone (substance) [SNOMED CT concept]
- Heavy chain disease [ORDO Disease]
- Higher-Energy Collisional Dissociation [NCIt concept]
HPO term(s)
- Congenital diaphragmatic hernia [HPO term]
- Multifactorial inheritance [HPO term]
ORDO concept(s)
- Congenital diaphragmatic hernia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Diaphragmatic Hernia [NCIt concept]
- Congenital diaphragmatic hernia [MedDRA Preferred Term]
- Congenital diaphragmatic hernia [ICD-10 Sub-category (who)]
- Congenital diaphragmatic hernia [ORDO Disease]
- Congenital diaphragmatic hernia [ICD-10 Sub-category]
- Congenital diaphragmatic hernia [HPO term]
- Congenital diaphragmatic hernia [PASCAL descriptor]
- Congenital diaphragmatic hernia [ICD-11 Subcategory]
- Congenital diaphragmatic hernia (disorder) [SNOMED CT concept]
- DIAPHRAGMATIC HERNIA CONGENITAL [WHO-ART Included Term]
- Diaphragmatic hernia congenital [MedDRA LLT]
- HIATUS HERNIA [WHO-ART Included Term]
- Hernias, Diaphragmatic, Congenital [MeSH concept]
- Hernias, Diaphragmatic, Congenital [MeSH Descriptor]
- congenital diaphragmatic hernia [Radlex concept]
- congenital diaphragmatic hernia [Disease (Nov.)]
- congenital diaphragmatic hernia, nos [SNOMED Notion]

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