Thoracic dysplasia and hydrocephalus syndrome

disorder

SNOMED 782951006CUI C1848864

Overview

Thoracic dysplasia and hydrocephalus 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.

Communicating hydrocephalus

Very frequent (80-99%)HP:0001334

Decreased body height

Very frequent (80-99%)HP:0004322

Low chest circumference

Very frequent (80-99%)HP:0000774

Short limbs

Very frequent (80-99%)HP:0009826

Abnormal metaphysis morphology

Frequent (30-79%)HP:0000944

Ataxia

Frequent (30-79%)HP:0001251

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Mental and motor retardation

Frequent (30-79%)HP:0001263

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Respiratory failure

Frequent (30-79%)HP:0002878

Retruded nasal dorsum

Frequent (30-79%)HP:0000457

Seizures

Frequent (30-79%)HP:0001250

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Communicating hydrocephalus(parent)

Hereditary disorder of nervous system(parent)

Congenital hydrocephalus(parent)

Congenital anomaly of rib(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Rhizomelic dysplasia(parent)

Congenital thoracic dysplasia(parent)

Quick Facts

SNOMED CT: 782951006
UMLS CUI: C1848864
Fully Specified Name: Thoracic dysplasia and hydrocephalus syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.