Hydrocephalus, tall stature, joint laxity syndrome

disorder

SNOMED 732926009CUI C1856051

Overview

Hydrocephalus, tall stature, joint laxity 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.

Accelerated linear growth

Very frequent (80-99%)HP:0000098

Arachnodactyly

Very frequent (80-99%)HP:0001166

Disproportionate tall stature

Very frequent (80-99%)HP:0001519

Hunched back

Very frequent (80-99%)HP:0002808

Joint instability

Very frequent (80-99%)HP:0001382

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Thumb-in-palm pattern

Very frequent (80-99%)HP:0001181

Aortic valve regurgitation

Frequent (30-79%)HP:0001659

Frontal protuberance

Frequent (30-79%)HP:0002007

Gait disturbance

Frequent (30-79%)HP:0001288

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Paralysis on one side of body

Frequent (30-79%)HP:0002301

Scoliosis

Frequent (30-79%)HP:0002650

Shoulder dislocation

Frequent (30-79%)HP:0003834

Umbilical hernia

Frequent (30-79%)HP:0001537

Kyphoscoliosis

HP:0002751

Thoracolumbar gibbus deformity

HP:0005619

Related Conditions

Congenital hydrocephalus(parent)

Congenital kyphosis(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Disorder of stature(parent)

Kyphosis of thoracic spine(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Arthropathy(parent)

Developmental hereditary disorder(parent)

Disorder of lumbar spine(parent)

Congenital deformity of lumbosacral region(parent)

Congenital kyphosis of thoracic spine(parent)

Quick Facts

SNOMED CT: 732926009
UMLS CUI: C1856051
Fully Specified Name: Hydrocephalus, tall stature, joint laxity syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.