Anophthalmia with pulmonary hypoplasia syndrome

disorder

SNOMED 722458000CUI C1832661

Overview

Anophthalmia with pulmonary hypoplasia 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.

Intellectual disability, profound

Always present (100%)HP:0002187

Absence of eyeballs

Very frequent (80-99%)HP:0000528

Decreased size of eyeball

Very frequent (80-99%)HP:0000568

Dull intelligence

Very frequent (80-99%)HP:0001249

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Alveolar capillary dysplasia

Frequent (30-79%)HP:0033208

Atresia of the pulmonary artery

Frequent (30-79%)HP:0004935

Blepharophimosis

Frequent (30-79%)HP:0000581

Common ventricle

Frequent (30-79%)HP:0001750

Diaphragmatic hernia

Frequent (30-79%)HP:0000776

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Lung disease

Frequent (30-79%)HP:0002088

PDA

Frequent (30-79%)HP:0001643

Pelvic kidney

Frequent (30-79%)HP:0000125

Poorly developed lungs

Frequent (30-79%)HP:0002089

Psychomotor retardation, profound

Frequent (30-79%)HP:0012736

Pulmonary stenosis

Frequent (30-79%)HP:0001642

Respiratory insufficiency

Frequent (30-79%)HP:0002093

Short stature, severe

Frequent (30-79%)HP:0003510

VSD

Frequent (30-79%)HP:0001629

Abnormal spleen morphology

Occasional (5-29%)HP:0025408

Abnormality of the uterus

Occasional (5-29%)HP:0000130

Annular pancreas

Occasional (5-29%)HP:0001734

Aplasia/Hypoplasia of the pancreas

Occasional (5-29%)HP:0100800

Central hypotonia

Occasional (5-29%)HP:0001252

Cryptorchidism

Occasional (5-29%)HP:0000028

Duodenal stenosis/atresia

Occasional (5-29%)HP:0100867

Horseshoe kidney

Occasional (5-29%)HP:0000085

Intrauterine growth retardation, IUGR

Occasional (5-29%)HP:0001511

Related Conditions

Autosomal hereditary disorder(parent)

Congenital anomaly of eye(parent)

Congenital anomaly of lung(parent)

Multiple system malformation syndrome(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 722458000
UMLS CUI: C1832661
Fully Specified Name: Matthew Wood 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.