Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

disorder

SNOMED 721229003CUI C2931197

Overview

Hydrocephalus, costovertebral dysplasia, Sprengel anomaly 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.

Increased size of mandible

Very frequent (80-99%)HP:0000303

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Sprengel deformity

Very frequent (80-99%)HP:0000912

Abnormal skin colour

Frequent (30-79%)HP:0001000

Abnormal tooth enamel

Frequent (30-79%)HP:0000682

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Brachydactyly

Frequent (30-79%)HP:0001156

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Concave bridge of nose

Frequent (30-79%)HP:0005280

Cutaneous photosensitivity

Frequent (30-79%)HP:0000992

Hemivertebra

Frequent (30-79%)HP:0002937

High arched palate

Frequent (30-79%)HP:0000218

High forehead

Frequent (30-79%)HP:0000348

Hyperplasia of nose

Frequent (30-79%)HP:0000448

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased size of skull

Frequent (30-79%)HP:0000256

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Low-set ears

Frequent (30-79%)HP:0000369

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Nostrils anteverted

Frequent (30-79%)HP:0000463

Obesity

Frequent (30-79%)HP:0001513

Potato nose

Frequent (30-79%)HP:0000414

Rib anomalies

Frequent (30-79%)HP:0000772

Space between great toe and second toe

Frequent (30-79%)HP:0001852

Zygomatic flattening

Frequent (30-79%)HP:0000272

Near sighted

Occasional (5-29%)HP:0000545

Squint

Occasional (5-29%)HP:0000486

Wide-spaced nipples

Occasional (5-29%)HP:0006610

Related Conditions

Congenital hydrocephalus(parent)

Congenital elevation of scapula(parent)

Multiple system malformation syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721229003
UMLS CUI: C2931197
Fully Specified Name: Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.