Pancreatic agenesis, holoprosencephaly syndrome

disorder

SNOMED 1222660008CUI C5681334

Overview

Pancreatic agenesis, holoprosencephaly 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.

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Absent gallbladder

Frequent (30-79%)HP:0011467

Decreased circulating lipoprotein lipase concentration

Frequent (30-79%)HP:0031209

Hypoamylasemia

Frequent (30-79%)HP:0410289

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Low birth weight

Frequent (30-79%)HP:0001518

Neonatal insulin-dependent diabetes mellitus

Frequent (30-79%)HP:0000857

Pancreatic aplasia

Frequent (30-79%)HP:0100801

Reduced C-peptide level

Frequent (30-79%)HP:0030795

Single brain ventricle

Frequent (30-79%)HP:0001360

Abnormal external nose morphology

Occasional (5-29%)HP:0010938

Absent/underdeveloped thumb bones

Occasional (5-29%)HP:0009658

Depressed cheekbone

Occasional (5-29%)HP:0010669

Dysplastic ears

Occasional (5-29%)HP:0000377

High arched palate

Occasional (5-29%)HP:0000218

Hypoxemia

Occasional (5-29%)HP:0012418

Low-set ears

Occasional (5-29%)HP:0000369

Ocular hypotelorism

Occasional (5-29%)HP:0000601

Prominent posterior skull

Occasional (5-29%)HP:0000269

Semilobar holoprosencephaly

Occasional (5-29%)HP:0002507

Single median incisor

Occasional (5-29%)HP:0006315

Sloping forehead

Occasional (5-29%)HP:0000340

Related Conditions

Agenesis of pancreas(parent)

Holoprosencephaly sequence(parent)

Genetic disease(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 1222660008
UMLS CUI: C5681334
Fully Specified Name: Pancreatic agenesis, holoprosencephaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.