Craniodiaphyseal dysplasia

disorder

SNOMED 205506004CUI C0410539

Overview

Craniodiaphyseal dysplasia 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.

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Coarse face

Very frequent (80-99%)HP:0000280

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Decreased body height

Very frequent (80-99%)HP:0004322

Enlargement of craniofacial bones

Very frequent (80-99%)HP:0004493

Frontal protuberance

Very frequent (80-99%)HP:0002007

Increased size of skull

Very frequent (80-99%)HP:0000256

Poor school performance

Very frequent (80-99%)HP:0001249

Rib anomalies

Very frequent (80-99%)HP:0000772

Thickening of shaft or central part of long bones

Very frequent (80-99%)HP:0005019

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Narrow ear canal

Frequent (30-79%)HP:0000402

Optic atrophy

Occasional (5-29%)HP:0000648

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Dysplasia with increased bone density(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 205506004
UMLS CUI: C0410539
Fully Specified Name: Craniodiaphyseal dysplasia (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.