Microcephalus with cardiac defect and lung malsegmentation syndrome

disorder

SNOMED 719379001CUI C2931129

Overview

Microcephalus with cardiac defect and lung malsegmentation 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.

Cognitive deficits

Very frequent (80-99%)HP:0100543

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Lung segmentation defects

Very frequent (80-99%)HP:0002101

VSD

Very frequent (80-99%)HP:0001629

Abnormal aortic morphology

Frequent (30-79%)HP:0001679

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Blepharophimosis

Frequent (30-79%)HP:0000581

Cleft of palate

Frequent (30-79%)HP:0000175

Deformity of the periauricular region

Frequent (30-79%)HP:0000383

Distal phalangeal hypoplasia

Frequent (30-79%)HP:0009882

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Muscular hypotonia

Frequent (30-79%)HP:0001252

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Preauricular sinus

Frequent (30-79%)HP:0004467

Pterygium colli

Frequent (30-79%)HP:0000465

Renal aplasia

Frequent (30-79%)HP:0000104

Renal hypoplasia/aplasia

Frequent (30-79%)HP:0008678

Short neck

Frequent (30-79%)HP:0000470

Small nasal alae

Frequent (30-79%)HP:0000430

Stiff joint

Frequent (30-79%)HP:0001387

Truncus arteriosus

Frequent (30-79%)HP:0001660

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Related Conditions

Congenital heart disease(parent)

Congenital anomaly of lung(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 719379001
UMLS CUI: C2931129
Fully Specified Name: Microcephalus with cardiac defect and lung malsegmentation 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.