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Hennekam lymphangiectasia-lymphoedema syndrome
disorderSNOMED 234146006CUI C0340834
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Intestinal lymphangiectasia
Always present (100%)HP:0002593
Absolute lymphocyte count decrease
Very frequent (80-99%)HP:0001888
Decreased circulating immunoglobulin concentration
Very frequent (80-99%)HP:0004313
Delayed eruption of teeth
Very frequent (80-99%)HP:0000684
Dental agenesis
Very frequent (80-99%)HP:0009804
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Distortion of face
Very frequent (80-99%)HP:0001999
Dysplastic ears
Very frequent (80-99%)HP:0000377
Flat facial shape
Very frequent (80-99%)HP:0012368
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased tooth count
Very frequent (80-99%)HP:0011069
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Low-set ears
Very frequent (80-99%)HP:0000369
Lymphangioma
Very frequent (80-99%)HP:0100764
Lymphoedema
Very frequent (80-99%)HP:0001004
Mild growth deficiency
Very frequent (80-99%)HP:0001530
Misshapened teeth
Very frequent (80-99%)HP:0006482
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Abnormal oral mucosa morphology
Frequent (30-79%)HP:0011830
Epilepsy
Frequent (30-79%)HP:0001250
Gingival overgrowth
Frequent (30-79%)HP:0000212
Glaucoma
Frequent (30-79%)HP:0000501
Increased width of the forehead
Frequent (30-79%)HP:0000337
Large spleen
Frequent (30-79%)HP:0001744
Low chest circumference
Frequent (30-79%)HP:0000774
Palpebronasal fold
Frequent (30-79%)HP:0000286
Peritoneal effusion
Frequent (30-79%)HP:0001541
Pleural lymphangiectasia
Frequent (30-79%)HP:0006531
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
St. Anthony's Fire
Frequent (30-79%)HP:0001055
Related Conditions
Hereditary lymphedema(parent)
Hereditary disorder of immune system(parent)
Combined immunodeficiency disease(parent)
Disorder of immune structure(parent)
Hereditary disorder of lymphatic system(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital anomaly of lymphatic structure of trunk(parent)
Congenital lymphangiectasia(parent)
Congenital immunodeficiency disease(parent)
Intestinal lymphangiectasis(parent)
Congenital anomaly of lower trunk(parent)
Congenital anomaly of limb(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 234146006
- UMLS CUI
- C0340834
- Fully Specified Name
- Hennekam lymphangiectasia-lymphedema 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.