Pyloric stenosis, infantile hypertrophic, 1

Preferred Label : Pyloric stenosis, infantile hypertrophic, 1;

Symbol : IHPS1;

CISMeF acronym : IHPS; IHPS1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : IHPS; Pyloric stenosis, infantile; Pyloric stenosis, infantile hypertrophic;

Description : Infantile pyloric stenosis is the most common condition requiring surgical intervention in the first year of life. It typically presents in infants 2 to 6 weeks after birth. Clinically the disorder is characterized by projectile vomiting, visible gastric peristalsis, and a palpable pyloric tumor (summary by Everett et al., 2008). Mortality was high until successful treatment by pyloromyotomy was developed by Ramstedt (1912). - Genetic Heterogeneity of Infantile Hypertrophic Pyloric Stenosis Multiple susceptibility loci have been implicated in IHPS including;

Inheritance : Autosomal dominant; Multifactorial;

Molecular basis : Susceptibility conferred by mutation in the promoter of the nitric oxide synthase-1 gene (NOS1, 163731.0001);

Prefixed ID : %179010;

Details

Origin ID

179010;

UMLS CUI

C1867403;

Automatic exact mappings (from CISMeF team)
- Congenital hypertrophic pyloric stenosis [ICD-11 Subcategory]
- Hypertrophic Pyloric Stenosis [NCIt concept]
- Infantile Hypertrophic Pyloric Stenosis [MeSH concept]
- NOS1 wt Allele [NCIt concept]
- pyloric stenosis, hypertrophic [MeSH Descriptor]
DO Cross reference
- hypertrophic pyloric stenosis [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Failure to thrive [HPO term]
- Hypochloremic metabolic alkalosis [HPO term]
- Multifactorial inheritance [HPO term]
- Projectile vomiting [HPO term]
- Pyloric stenosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile Hypertrophic Pyloric Stenosis [MeSH concept]
Validated automatic mappings to NTBT
- hypertrophic pyloric stenosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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