Overview
Campomelia Cumming type 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.
Abnormality of the pancreas
Very frequent (80-99%)HP:0001732
Bowed long bones
Very frequent (80-99%)HP:0006487
Brachydactyly
Very frequent (80-99%)HP:0001156
Cleft of palate
Very frequent (80-99%)HP:0000175
Clubbing of toes
Very frequent (80-99%)HP:0100760
Cystic hygroma of the neck
Very frequent (80-99%)HP:0000476
Micromelia
Very frequent (80-99%)HP:0002983
Multicystic kidney dysplasia
Very frequent (80-99%)HP:0000003
Multiple kidney cysts
Very frequent (80-99%)HP:0005562
Multiple pancreatic cysts
Very frequent (80-99%)HP:0001737
Oligohydramnios
Very frequent (80-99%)HP:0001562
Prematurely aged appearance
Very frequent (80-99%)HP:0007495
Rib anomalies
Very frequent (80-99%)HP:0000772
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Turridolichocephaly
Very frequent (80-99%)HP:0000268
Abnormality of the chest
Frequent (30-79%)HP:0000765
Abnormally ossified vertebrae
Frequent (30-79%)HP:0100569
Enlarged liver
Frequent (30-79%)HP:0002240
Hydrops fetalis
Frequent (30-79%)HP:0001789
Myelodysplasia
Frequent (30-79%)HP:0002863
Skin dimples
Frequent (30-79%)HP:0010781
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of the intestine
Occasional (5-29%)HP:0002242
Aplasia/Hypoplasia affecting the eye
Occasional (5-29%)HP:0008056
Lymphatic obstruction
Occasional (5-29%)HP:0001004
Thickened facial skin with coarse facial features
Occasional (5-29%)HP:0000280
Decreased body height
HP:0004322
Multiple accessory spleens
HP:0001748
Polycystic kidneys
HP:0000113
Polycystic liver disease
HP:0006557
Related Conditions
Multiple malformation syndrome with limb defect as major feature(parent)
Congenital anomaly of limb(parent)
Recessive hereditary disorder (autosomal)(parent)
Bent bone dysplasia group(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Lymphatic oedema(parent)
Congenital deformity of musculoskeletal system(parent)
Abnormality of limb bone morphology(parent)
Quick Facts
- SNOMED CT
- 720599002
- UMLS CUI
- C1859371
- Fully Specified Name
- Campomelia Cumming type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.