Holoprosencephaly with caudal dysgenesis syndrome

disorder

SNOMED 771146007CUI C4749731

Overview

Holoprosencephaly with caudal dysgenesis 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.

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Abnormal diencephalon morphology

Frequent (30-79%)HP:0010662

Abnormal morphology of the radius

Frequent (30-79%)HP:0002818

Abnormality of the cerebral blood vessels

Frequent (30-79%)HP:0100659

Cleft of palate

Frequent (30-79%)HP:0000175

Cyclopia

Frequent (30-79%)HP:0009914

Dysplastic radii

Frequent (30-79%)HP:0006433

Genital abnormalities

Frequent (30-79%)HP:0000078

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low-set ears

Frequent (30-79%)HP:0000369

Midline cleft lip

Frequent (30-79%)HP:0000161

Premature birth

Frequent (30-79%)HP:0001622

Prominent globes

Frequent (30-79%)HP:0000520

Renal failure

Frequent (30-79%)HP:0000083

Single brain ventricle

Frequent (30-79%)HP:0001360

Skeletal anomalies

Frequent (30-79%)HP:0000924

Related Conditions

Holoprosencephaly sequence(parent)

Disorder of sacrum(parent)

Congenital anomaly of the pelvis(parent)

Congenital anomaly of spinal cord(parent)

Quick Facts

SNOMED CT: 771146007
UMLS CUI: C4749731
Fully Specified Name: Holoprosencephaly with caudal dysgenesis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.