Rhombencephalosynapsis

disorder

SNOMED 442300000CUI C1866130

Overview

Rhombencephalosynapsis 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 the dentate nucleus

Very frequent (80-99%)HP:0100321

Cerebellar vermis aplasia

Very frequent (80-99%)HP:0002335

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Fusion of the cerebellar hemispheres

Very frequent (80-99%)HP:0006899

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large head

Very frequent (80-99%)HP:0000256

Narrow mouth

Very frequent (80-99%)HP:0000160

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Retromicrognathia

Very frequent (80-99%)HP:0000308

Ataxia

Frequent (30-79%)HP:0001251

De Morsier syndrome

Frequent (30-79%)HP:0100842

Fusion of the left and right thalami

Frequent (30-79%)HP:0010664

Mental deficiency

Frequent (30-79%)HP:0001249

Abnormal connection between trachea and esophagus

Occasional (5-29%)HP:0002575

Abnormality of the cardiovascular system

Occasional (5-29%)HP:0001626

Abnormality of the uterus

Occasional (5-29%)HP:0000130

Abnormality of vision

Occasional (5-29%)HP:0000504

Aganglionic megacolon

Occasional (5-29%)HP:0002251

Anal atresia

Occasional (5-29%)HP:0002023

Anomaly of the face

Occasional (5-29%)HP:0000271

Complete duplication of thumb bones

Occasional (5-29%)HP:0009943

Esophageal atresia

Occasional (5-29%)HP:0002032

Eye disease

Occasional (5-29%)HP:0000478

Kidney malformation

Occasional (5-29%)HP:0012210

Partial syndactyly

Occasional (5-29%)HP:0006101

Phalangeal hypoplasia

Occasional (5-29%)HP:0009803

Polydactyly

Occasional (5-29%)HP:0010442

Related Conditions

Gomez Lopez Hernandez syndrome(child)

Aplasia of the vermis(parent)

Quick Facts

SNOMED CT: 442300000
UMLS CUI: C1866130
Fully Specified Name: Rhombencephalosynapsis (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.