Chondroectodermal dysplasia with night blindness syndrome

disorder

SNOMED 763134002CUI C4706300

Overview

Chondroectodermal dysplasia with night blindness 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.

Abnormal development of end part of bone

Very frequent (80-99%)HP:0002656

Abnormal hair morphology

Very frequent (80-99%)HP:0001595

Abnormal kneecap

Very frequent (80-99%)HP:0003045

Abnormality of the knee

Very frequent (80-99%)HP:0002815

Congenital malformed nails

Very frequent (80-99%)HP:0008394

Decreased body height

Very frequent (80-99%)HP:0004322

Dystrophic nails

Very frequent (80-99%)HP:0008404

Equinovarus deformity

Very frequent (80-99%)HP:0008110

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Fractures of the long bones

Very frequent (80-99%)HP:0003084

Gait disturbance

Very frequent (80-99%)HP:0001288

Hyperconvex toenail

Very frequent (80-99%)HP:0030055

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Increased lacrimation

Very frequent (80-99%)HP:0009926

Irregular metaphyses

Very frequent (80-99%)HP:0003025

Metaphyseal dysplasia

Very frequent (80-99%)HP:0100255

Misshapened teeth

Very frequent (80-99%)HP:0006482

Osteopenia

Very frequent (80-99%)HP:0000938

Osteoporosis

Very frequent (80-99%)HP:0000939

Otitis media

Very frequent (80-99%)HP:0000388

Retarded ossification

Very frequent (80-99%)HP:0002750

Static congenital hemeralopia

Very frequent (80-99%)HP:0007642

Sweating

Very frequent (80-99%)HP:0000975

Talipes calcaneovarus

Very frequent (80-99%)HP:0008124

Tubular fingernails

Very frequent (80-99%)HP:0001812

Wide humerus

Very frequent (80-99%)HP:0003886

Onychauxis

Occasional (5-29%)HP:0012542

Related Conditions

Chondroectodermal dysplasia(parent)

Night blindness(parent)

Quick Facts

SNOMED CT: 763134002
UMLS CUI: C4706300
Fully Specified Name: Chondroectodermal dysplasia with night blindness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.