Overview
Clinical overview and emergency guidance are pending physician authorship. Graph-derived data (ontology codes, linked conditions, diagnostic biomarkers) is available below.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Cross syndrome
Occasional (5-29%)
Levy-Hollister syndrome
Occasional (5-29%)
Fanconi pancytopenia syndrome
Very frequent (80-99%)
Nager syndrome
Always present (100%)
Snapping thumb syndrome
Cleidocranial dysostosis
Occasional (5-29%)
Progressive myositis ossificans
Frequent (30-79%)
Galactosylceramide lipidosis
Very frequent (80-99%)
Galactosylceramide beta-galactosidase deficiency
Very frequent (80-99%)
Troyer syndrome
Occasional (5-29%)
15q24 microdeletion
Occasional (5-29%)
Renpenning syndrome
Occasional (5-29%)
Anophthalmos with limb anomalies
Frequent (30-79%)
Aplasia of fibula co-occurrent with complex brachydactyly
Very frequent (80-99%)
Autosomal dominant optic atrophy and cataract
Occasional (5-29%)
Acrorenoocular syndrome
Very frequent (80-99%)
Foix Chavany Marie syndrome
Very frequent (80-99%)
Mardini Nyhan syndrome
Occasional (5-29%)
Richieri Costa Guion Almeida Ramos syndrome
Very frequent (80-99%)
Nephrosis, deafness, urinary tract, digital malformation syndrome
Frequent (30-79%)
Bone dysplasia lethal Holmgren type
Frequent (30-79%)
Distal monosomy 17q
Very frequent (80-99%)
Thumb stiffness, brachydactyly, intellectual disability syndrome
Very frequent (80-99%)
Velofacioskeletal syndrome
Frequent (30-79%)
Finucane Kurtz Scott syndrome
Very frequent (80-99%)
Quick Facts
- SNOMED CT
- 299130003
- UMLS CUI
- C0575897
- Fully Specified Name
- Deformity of thumb (finding)
- Associated Conditions
- 25
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.