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Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome
disorderSNOMED 17608003CUI C0265267
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent terminal index finger phalanx
Always present (100%)HP:0009565
Aplasia of the distal phalanx of the 3rd finger
Always present (100%)HP:0009429
Aplasia of the middle phalanx of the 2nd finger
Always present (100%)HP:0009576
Aplasia of the middle phalanx of the 3rd finger
Always present (100%)HP:0009438
Aplasia of toe
Always present (100%)HP:0010760
Cutaneous syndactyly between fingers 2 and 5
Always present (100%)HP:0005650
Erythema
Always present (100%)HP:0010783
Flat nasal bridge
Always present (100%)HP:0005280
Orthokeratosis
Always present (100%)HP:0040162
Partial syndactyly
Always present (100%)HP:0006101
Single flexion crease
Always present (100%)HP:0000954
Small nail
Always present (100%)HP:0001792
Unilateral renal agenesis
Always present (100%)HP:0000122
Webbed 4th-5th toes
Always present (100%)HP:0004692
Stippling of the epiphyses
Very frequent (80-99%)HP:0010655
Abnormality of the periungual region
Frequent (30-79%)HP:0100803
Aplasia/hypoplasia involving bones of the extremities
Frequent (30-79%)HP:0045060
Congenital ichthyosiform erythroderma
Frequent (30-79%)HP:0007431
Congenital malformed nails
Frequent (30-79%)HP:0008394
Epidermal hyperkeratosis
Frequent (30-79%)HP:0000962
Epidermal nevus
Frequent (30-79%)HP:0010816
Naevus
Frequent (30-79%)HP:0003764
Parakeratosis
Frequent (30-79%)HP:0001036
Shortened long bones of hand
Frequent (30-79%)HP:0010049
Small pelvis
Frequent (30-79%)HP:0008839
Thickening of upper layer of skin
Frequent (30-79%)HP:0025092
Verruciform xanthoma
Frequent (30-79%)HP:0031517
Adrenal hypoplasia
Occasional (5-29%)HP:0000835
Amelia
Occasional (5-29%)HP:0009827
Aplasia/Hypoplasia involving the central nervous system
Occasional (5-29%)HP:0002977
Related Conditions
Multiple malformation syndrome with limb defect as major feature(parent)
X-linked dominant hereditary disease(parent)
Congenital anomaly of skin(parent)
Congenital ichthyosiform erythroderma(parent)
Disorder of lipid metabolism(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of limb(parent)
Inborn error of metabolism(parent)
Quick Facts
- SNOMED CT
- 17608003
- UMLS CUI
- C0265267
- Fully Specified Name
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 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.