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Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
disorderSNOMED 763404001CUI C1855788
Overview
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability 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.
Absence of scalp hair
Very frequent (80-99%)HP:0002293
Absent axillary hair
Very frequent (80-99%)HP:0002221
Absent pubic hair
Very frequent (80-99%)HP:0002555
Congenital alopecia totalis
Very frequent (80-99%)HP:0005597
Dull intelligence
Very frequent (80-99%)HP:0001249
Generalized ichthyosis
Very frequent (80-99%)HP:0007503
Cognitive delay
Frequent (30-79%)HP:0001263
Delayed ability to walk
Frequent (30-79%)HP:0031936
Delayed gross motor development
Frequent (30-79%)HP:0002194
Dry skin
Frequent (30-79%)HP:0000958
Eclabium
Frequent (30-79%)HP:0012472
Epidermal hyperplasia
Frequent (30-79%)HP:0025092
Everted eyelid
Frequent (30-79%)HP:0000656
Generalised hyperkeratosis
Frequent (30-79%)HP:0005595
Loose skin
Frequent (30-79%)HP:0000973
Scaling skin
Frequent (30-79%)HP:0040189
Unsteady walk
Frequent (30-79%)HP:0002317
No speech development
Occasional (5-29%)HP:0001344
Sparse eyebrow
Occasional (5-29%)HP:0045075
Quick Facts
- SNOMED CT
- 763404001
- UMLS CUI
- C1855788
- Fully Specified Name
- Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.