Congenital short bowel syndrome

disorder

SNOMED 715201005CUI C5441717

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Belly bloating

Always present (100%)HP:0003270

Chronic diarrhoea

Always present (100%)HP:0002028

Dehydration

Always present (100%)HP:0001944

Intestinal atresia

Always present (100%)HP:0011100

Intolerance to protein

Always present (100%)HP:0001984

Metabolic acidosis

Always present (100%)HP:0001942

Poor weight gain

Always present (100%)HP:0001508

Short bowel

Always present (100%)HP:0030889

Vomiting

Always present (100%)HP:0002013

Hypoplastic intestines

Very frequent (80-99%)HP:0005245

Atrophy of fat

Frequent (30-79%)HP:0100578

Cognitive deficits

Frequent (30-79%)HP:0100543

Decreased body height

Frequent (30-79%)HP:0004322

Intestinal malrotation

Frequent (30-79%)HP:0002566

Projectile vomiting

Frequent (30-79%)HP:0002587

Thin, sparse hair

Frequent (30-79%)HP:0008070

Displacement of the external urethral orifice

Occasional (5-29%)HP:0100627

Abnormal peristalsis

HP:0030914

Decreased intestinal transit time

HP:0030897

Fat in feces

HP:0002570

Related Conditions

Diaphragmatic hernia, short bowel, asplenia syndrome(child)

Congenital anomaly of small intestine(parent)

Short bowel syndrome(parent)

Congenital deformity(parent)

Quick Facts

SNOMED CT: 715201005
UMLS CUI: C5441717
Fully Specified Name: Congenital short bowel syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.