Overview
Typus Edinburgensis 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.
Aplasia/Hypoplasia affecting the eye
Very frequent (80-99%)HP:0008056
Choanal atresia
Very frequent (80-99%)HP:0000453
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hirsutism
Very frequent (80-99%)HP:0001007
Mental-retardation
Very frequent (80-99%)HP:0001249
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Voice abnormality
Very frequent (80-99%)HP:0001608
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Generalized hirsutism
Frequent (30-79%)HP:0002230
Long fingers
Frequent (30-79%)HP:0100807
Low posterior hair line
Frequent (30-79%)HP:0002162
Low-set ears
Frequent (30-79%)HP:0000369
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Nostrils anteverted
Frequent (30-79%)HP:0000463
Seizures
Frequent (30-79%)HP:0001250
Slender fingers
Frequent (30-79%)HP:0001238
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Unibrow
Frequent (30-79%)HP:0000664
Abnormality of neuronal migration
Occasional (5-29%)HP:0002269
Early bone maturation
Occasional (5-29%)HP:0005616
Iris brushfield spots
Occasional (5-29%)HP:0001088
Narrow mouth
Occasional (5-29%)HP:0000160
Stiff joint
Occasional (5-29%)HP:0001387
Ulnar Drift
Occasional (5-29%)HP:0009465
Carp-shaped mouth
HP:0010806
Delayed motor milestones
HP:0001270
Quick Facts
- SNOMED CT
- 771178004
- UMLS CUI
- C0795933
- Fully Specified Name
- Edinburgh malformation syndrome (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.