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Absent thumb with short stature and immunodeficiency syndrome
disorderSNOMED 719685004CUI C4304503
Overview
Absent thumb with short stature and immunodeficiency syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Related Conditions
Congenital immunodeficiency disease(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of immune system(parent)
Hereditary disorder of musculoskeletal system(parent)
Combined immunodeficiency disease(parent)
Congenital malformation syndromes associated with short stature(parent)
Congenital anomaly of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Aplasia of thumb(parent)
Abnormality of skeleton morphology(parent)
Quick Facts
- SNOMED CT
- 719685004
- UMLS CUI
- C4304503
- Fully Specified Name
- Absent thumb with short stature and immunodeficiency syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
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.