Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome

disorder

SNOMED 722206009CUI C2931296

Overview

Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Atria septal defect

Very frequent (80-99%)HP:0001631

Neonatal insulin-dependent diabetes mellitus

Very frequent (80-99%)HP:0000857

Pancreatic insufficiency

Very frequent (80-99%)HP:0001738

PFO

Very frequent (80-99%)HP:0001655

VSD

Very frequent (80-99%)HP:0001629

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

Cognitive delay

Frequent (30-79%)HP:0001263

Feeding difficulties

Frequent (30-79%)HP:0011968

Hernia

Frequent (30-79%)HP:0100790

Hypoplastic pancreas

Frequent (30-79%)HP:0002594

Intermittent diarrhea

Frequent (30-79%)HP:0002254

Pancreatic aplasia

Frequent (30-79%)HP:0100801

Poor school performance

Frequent (30-79%)HP:0001249

Undergrowth

Frequent (30-79%)HP:0001508

Absent gallbladder

Occasional (5-29%)HP:0011467

Colon perforation

Occasional (5-29%)HP:0031369

Congenital absence of the pericardium

Occasional (5-29%)HP:0011629

Congenital hypothyroidism

Occasional (5-29%)HP:0000851

Congenital hypotonia

Occasional (5-29%)HP:0001319

Decreased amniotic fluid index

Occasional (5-29%)HP:0001562

Decreased size of cranium

Occasional (5-29%)HP:0000252

Double outlet left ventricle

Occasional (5-29%)HP:0011581

Inguinal hernia

Occasional (5-29%)HP:0000023

Laboured breathing

Occasional (5-29%)HP:0002098

Left diaphragmatic hernia

Occasional (5-29%)HP:0009112

Microcolon

Occasional (5-29%)HP:0004388

PDA

Occasional (5-29%)HP:0001643

Perimembraneous ventricular septal defect

Occasional (5-29%)HP:0011682

Prolonged activated partial thromboplastin time

Occasional (5-29%)HP:0003645

Pulmonary artery stenosis

Occasional (5-29%)HP:0004415

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital heart disease(parent)

Congenital hypoplasia of pancreas(parent)

Diabetes mellitus(parent)

Cardiovascular system hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 722206009
UMLS CUI: C2931296
Fully Specified Name: Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.