Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Alveolar hypoventilation
Always present (100%)HP:0002791
Central hypoventilation
Always present (100%)HP:0007110
Nocturnal under breathing
Always present (100%)HP:0002877
Abnormality of the autonomic nervous system
Very frequent (80-99%)HP:0002270
Reduced heart rate variability
Very frequent (80-99%)HP:0031861
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Cancer of early nerve cells
Occasional (5-29%)HP:0003006
Central hypotonia
Occasional (5-29%)HP:0001252
Chronic constipation
Occasional (5-29%)HP:0012450
Cognitive deficits
Occasional (5-29%)HP:0100543
Epilepsy
Occasional (5-29%)HP:0001250
Ganglioneuroblastoma
Occasional (5-29%)HP:0006747
Ineffective esophageal motility
Occasional (5-29%)HP:0031857
Tumors of the central nervous system
Occasional (5-29%)HP:0100006
Apnea
HP:0002104
Autonomic dysregulation
HP:0012332
Down-slanting palpebral fissure
HP:0000494
Feeding difficulties
HP:0011968
Ganglioneuroma
HP:0003005
Hypercarbia
HP:0012416
Hypoxia
HP:0012418
Impaired temperature control
HP:0004370
Low-set ears
HP:0000369
Posteriorly angulated ears
HP:0000358
Profuse sweating
HP:0000975
Quick Facts
- SNOMED CT
- 399040002
- UMLS CUI
- C1275808
- Fully Specified Name
- Congenital central hypoventilation (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.