Night blindness, skeletal anomalies, dysmorphism syndrome

disorder

SNOMED 1237228009CUI C5679607

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal ERG

Very frequent (80-99%)HP:0000512

Abnormal palate morphology

Very frequent (80-99%)HP:0000174

Abnormality of retina blood vessels

Very frequent (80-99%)HP:0008046

Brachydactyly

Very frequent (80-99%)HP:0001156

Dental cavities

Very frequent (80-99%)HP:0000670

Difficulties with night vision

Very frequent (80-99%)HP:0000662

Eye drop

Very frequent (80-99%)HP:0000508

Hypotrophic malar bone

Very frequent (80-99%)HP:0000272

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Near sighted

Very frequent (80-99%)HP:0000545

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Retrognathia

Very frequent (80-99%)HP:0000278

Sloping shoulders

Very frequent (80-99%)HP:0200021

Unibrow

Very frequent (80-99%)HP:0000664

Abnormality of RPE

Frequent (30-79%)HP:0007703

Cognitive deficits

Frequent (30-79%)HP:0100543

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Heterochromia iridis

Frequent (30-79%)HP:0001100

Nasal anomaly

Frequent (30-79%)HP:0000366

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Scoliosis

Frequent (30-79%)HP:0002650

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Related Conditions

Chronic musculoskeletal disorder(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Night blindness(parent)

Congenital anomaly of musculoskeletal system(parent)

Genetic disease(parent)

Abnormality of skeleton morphology(parent)

Quick Facts

SNOMED CT: 1237228009
UMLS CUI: C5679607
Fully Specified Name: Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.