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Hirschsprung disease with nail hypoplasia and dysmorphism
disorderSNOMED 721223002CUI C1856110
Overview
Hirschsprung disease with nail hypoplasia and dysmorphism 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
HP:0002251
Anal atresia
HP:0002023
Distortion of face
HP:0001999
Hydronephrosis
HP:0000126
Inguinal hernia
HP:0000023
Small nail
HP:0001792
Related Conditions
Congenital anomaly of face bones(parent)
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Aganglionic megacolon(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of musculoskeletal system(parent)
Inherited autonomic nervous system disorder(parent)
Congenital dilatation of colon(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Congenital hypoplasia of nail unit(parent)
Quick Facts
- SNOMED CT
- 721223002
- UMLS CUI
- C1856110
- Fully Specified Name
- Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 6
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.