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Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome (disorder)
Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome
ROHHADNET (rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation, neural tumors) syndrome
ROHHAD (rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation) syndrome
A rare potentially life-threatening genetic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatremia, hypochloremia), respiratory failure and late-onset neuroendocrine tumors may also be associated.
syndroom van snel aanvangende obesitas op kinderleeftijd, disfunctie van hypothalamus, hypoventilatie, autonome ontregeling-syndroom
ROHHAD
Id773663004
StatusPrimitive
Finding siteHypothalamic structure
OccurrenceChildhood
Has interpretationAbove reference range
InterpretsBody weight measure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE66.2
RuleTRUE
AdviceALWAYS E66.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE23.3
RuleTRUE
AdviceALWAYS E23.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG90.9
RuleTRUE
AdviceALWAYS G90.9
CorrelationSNOMED CT source code to target map code correlation not specified