Hydrocephalus, cardiac malformation, dense bone syndrome

disorder

SNOMED 717859007CUI C1859526

Overview

Hydrocephalus, cardiac malformation, dense bone 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.

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Depressed philtrum

Very frequent (80-99%)HP:0002002

Increased bone mineral density

Very frequent (80-99%)HP:0011001

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Potato nose

Very frequent (80-99%)HP:0000414

Respiratory insufficiency

Very frequent (80-99%)HP:0002093

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Communicating hydrocephalus

Frequent (30-79%)HP:0001334

Low platelet count

Frequent (30-79%)HP:0001873

Muscular hypotonia

Frequent (30-79%)HP:0001252

Nonsyndromal hydrocephalus

HP:0000238

Skeletal anomalies

HP:0000924

Related Conditions

Congenital heart disease(parent)

Congenital hydrocephalus(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 717859007
UMLS CUI: C1859526
Fully Specified Name: Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.