Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome

disorder

SNOMED 722132007CUI C1859967

Overview

Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia 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 morphology of female internal genitalia

Very frequent (80-99%)HP:0000008

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Abnormality of lung artery

Very frequent (80-99%)HP:0004414

Poorly developed lungs

Very frequent (80-99%)HP:0002089

Underdeveloped pulmonary artery

Very frequent (80-99%)HP:0004971

Abnormality of the uterus

Frequent (30-79%)HP:0000130

Absent gonadal tissue

Frequent (30-79%)HP:0008633

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Anomaly of the testes

Frequent (30-79%)HP:0000035

Diaphragmatic hernia

Frequent (30-79%)HP:0000776

Female pseudohermaphroditism

Frequent (30-79%)HP:0010458

Left ventricular hypoplasia

Frequent (30-79%)HP:0004383

Multicystic kidney dysplasia

Frequent (30-79%)HP:0000003

Omphalocoele

Frequent (30-79%)HP:0001539

Renal hypoplasia/aplasia

Frequent (30-79%)HP:0008678

Abnormal aortic morphology

Occasional (5-29%)HP:0001679

Abnormal clavicles

Occasional (5-29%)HP:0000889

Abnormality of neuronal migration

Occasional (5-29%)HP:0002269

Abnormality of the spleen

Occasional (5-29%)HP:0001743

Bifid skull

Occasional (5-29%)HP:0002084

Cardiac arrhythmias

Occasional (5-29%)HP:0011675

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Meningocele

Occasional (5-29%)HP:0002435

Optic atrophy

Occasional (5-29%)HP:0000648

Rib anomalies

Occasional (5-29%)HP:0000772

Situs inversus

Occasional (5-29%)HP:0001696

Split spine

Occasional (5-29%)HP:0002414

Sudden cardiac death

Occasional (5-29%)HP:0001645

Uneven or disproportionate growth of one body part compared to another

Occasional (5-29%)HP:0100555

Related Conditions

Multiple system malformation syndrome(parent)

Gonadal dysgenesis(parent)

Quick Facts

SNOMED CT: 722132007
UMLS CUI: C1859967
Fully Specified Name: Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia 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.