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Pterygium colli with intellectual disability and digital anomaly syndrome
disorderSNOMED 719256004CUI C1838562
Overview
Pterygium colli with intellectual disability and digital anomaly syndrome 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.
Pterygium colli
Always present (100%)HP:0000465
Abnormality of the epiphysis of the distal phalanx of the thumb
Frequent (30-79%)HP:0009662
Attachment of thumb close to wrist
Frequent (30-79%)HP:0009623
Broad distal phalanx of finger
Frequent (30-79%)HP:0009836
Enlarged interphalangeal joints
Frequent (30-79%)HP:0006247
Epicanthus inversus
Frequent (30-79%)HP:0000537
Eye drop
Frequent (30-79%)HP:0000508
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Increased distance between eyes
Frequent (30-79%)HP:0000316
Mongoloid slant
Frequent (30-79%)HP:0000582
Palmar oedema
Frequent (30-79%)HP:0025538
Plantar edema
Frequent (30-79%)HP:0025537
Poor school performance
Frequent (30-79%)HP:0001249
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Wide skull shape
Frequent (30-79%)HP:0000248
Quick Facts
- SNOMED CT
- 719256004
- UMLS CUI
- C1838562
- Fully Specified Name
- Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.