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Dermotrichic syndrome

disorder
SNOMED 782916003CUI C0795919

Overview

Dermotrichic 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.

Aganglionic megacolon
Very frequent (80-99%)HP:0002251
Blepharophimosis
Very frequent (80-99%)HP:0000581
Decreased sweating
Very frequent (80-99%)HP:0000966
Dystrophic nails
Very frequent (80-99%)HP:0008404
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Epilepsy
Very frequent (80-99%)HP:0001250
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hyperconvex toenail
Very frequent (80-99%)HP:0030055
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Macrotia
Very frequent (80-99%)HP:0000400
Mental-retardation
Very frequent (80-99%)HP:0001249
Multiple vertebral anomalies
Very frequent (80-99%)HP:0003468
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Short stature, proportionate
Very frequent (80-99%)HP:0003508
Aminoaciduria
Occasional (5-29%)HP:0003355
Low number of red blood cells or hemoglobin
Occasional (5-29%)HP:0001903

Quick Facts

SNOMED CT
782916003
UMLS CUI
C0795919
Fully Specified Name
Dermotrichic syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
17
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.