Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Congenital ichthyosiform erythroderma
Very frequent (80-99%)HP:0007431
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Everted eyelid
Very frequent (80-99%)HP:0000656
Hearing abnormality
Very frequent (80-99%)HP:0000364
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Eclabium
Frequent (30-79%)HP:0012472
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Premature birth
Frequent (30-79%)HP:0001622
Red scaly skin caused by inflammatory skin disease
Frequent (30-79%)HP:0001019
Autoagression
Occasional (5-29%)HP:0100716
Dehydration
Occasional (5-29%)HP:0001944
Delayed motor milestones
Occasional (5-29%)HP:0001270
Lens opacities
Occasional (5-29%)HP:0000518
Malignant hyperthermia
Occasional (5-29%)HP:0002047
Polydactyly of the foot
Occasional (5-29%)HP:0001829
Polydactyly of the hand
Occasional (5-29%)HP:0001161
Respiratory insufficiency
Occasional (5-29%)HP:0002093
Sudden cardiac death
Occasional (5-29%)HP:0001645
Undergrowth
Occasional (5-29%)HP:0001508
Muscle rigidity
HP:0002063
Protruding eyes
HP:0000520
Protruding lower lip
HP:0000232
Short finger
HP:0009381
Quick Facts
- SNOMED CT
- 205548006
- UMLS CUI
- C0239849
- Fully Specified Name
- Harlequin ichthyosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.