Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation

Preferred Label : Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation;

NCIt synonyms : ROHHAD Syndrome;

NCIt related terms : Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome; ROHHAD;

NCIt definition : A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.;

Alternative definition : NICHD: A syndrome of unknown etiology characterized by hypothalamic dysfunction with hyperphagia, inability to maintain normal water balance, growth hormone deficiency, hypothyroidism, early or late puberty, increased prolactin concentration, hypoventilation, and autonomic dysfunction.;

Details

Origin ID

C121944;

UMLS CUI

C4751121;

Automatic exact mappings (from CISMeF team)
- ROHHAD syndrome [MedDRA Preferred Term]
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation [MedDRA LLT]
CISMeF manual mappings
- Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome (disorder) [SNOMED CT concept]
- rapid onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation [Disease (Nov.)]
Currated CISMeF NLP mapping
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ROHHAD syndrome [MedDRA Preferred Term]
- Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome (disorder) [SNOMED CT concept]
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation [MedDRA LLT]
- rapid onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation [Disease (Nov.)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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