Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Galactosuria
Always present (100%)HP:0012023
Decreased circulating immunoglobulin concentration
Very frequent (80-99%)HP:0004313
Funny looking face
Very frequent (80-99%)HP:0001999
Immune deficiency
Very frequent (80-99%)HP:0002721
Intractable diarrhoea
Very frequent (80-99%)HP:0002041
Abnormality of skin morphology
Frequent (30-79%)HP:0011121
Bulging forehead
Frequent (30-79%)HP:0011220
Cirrhosis
Frequent (30-79%)HP:0001394
Cognitive delay
Frequent (30-79%)HP:0001263
Dependency on intravenous nutrition
Frequent (30-79%)HP:0025156
Enlarged liver
Frequent (30-79%)HP:0002240
Hypopigmentation of hair
Frequent (30-79%)HP:0005599
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Increased width of the forehead
Frequent (30-79%)HP:0000337
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Liver disease
Frequent (30-79%)HP:0001392
Liver fibrosis
Frequent (30-79%)HP:0001395
Low birth weight
Frequent (30-79%)HP:0001518
Mental retardation, mild
Frequent (30-79%)HP:0001256
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Panypogammaglobulinemia
Frequent (30-79%)HP:0003139
Small intestine biopsy shows villous atrophy
Frequent (30-79%)HP:0011473
Trichorrhexis nodosa
Frequent (30-79%)HP:0009886
Uncombable hair
Frequent (30-79%)HP:0030056
Absolute lymphocyte count decrease
Occasional (5-29%)HP:0001888
Cardiac anomaly
Occasional (5-29%)HP:0001627
Colitis
Occasional (5-29%)HP:0002583
Dry skin
Occasional (5-29%)HP:0000958
Flat light-brown mark on skin
Occasional (5-29%)HP:0000957
Quick Facts
- SNOMED CT
- 703406006
- UMLS CUI
- C1857276
- Fully Specified Name
- Trichohepatoenteric 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.