Overview
Fanconi anemia of complementation group C 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.
Anterior wedging of T12
Always present (100%)HP:0011940
Cafe-au-lait spots
Always present (100%)HP:0000957
Chromosomal breakage induced by mitomycin C
Always present (100%)HP:0003221
Flexion contractures
Always present (100%)HP:0001371
Hypopigmented macule
Always present (100%)HP:0020073
Hypoplastic bone marrow
Always present (100%)HP:0005528
Inverted triangular face
Always present (100%)HP:0000325
Low number of red blood cells or haemoglobin
Always present (100%)HP:0001903
Low platelet count
Always present (100%)HP:0001873
Melanoderma
Always present (100%)HP:0000953
Neutropoenia
Always present (100%)HP:0001875
Palpebronasal fold
Always present (100%)HP:0000286
Pancytopenia
Always present (100%)HP:0001876
Small for gestational age infant
Always present (100%)HP:0001511
VSD
Always present (100%)HP:0001629
Absent thumb
Frequent (30-79%)HP:0009777
Decreased body height
Frequent (30-79%)HP:0004322
Radial aplasia
Frequent (30-79%)HP:0003974
Anemic pallor
HP:0001017
Blood cancer
Excluded (<1%)HP:0001909
Bruising susceptibility
HP:0000978
Complete duplication of thumb bones
HP:0009943
Cryptorchidism
HP:0000028
Decreased size of cranium
HP:0000252
Deficient excision of UV-induced pyrimidine dimers in DNA
HP:0003213
Duplicated collecting system
HP:0000081
Duplication of phalanx of thumb
Excluded (<1%)HP:0009942
Ectopic kidney
HP:0000086
Hearing impairment
HP:0000365
Horseshoe kidney
HP:0000085
Quick Facts
- SNOMED CT
- 1285021005
- UMLS CUI
- C3468041
- Fully Specified Name
- Fanconi anemia of complementation group C (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.