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syndroom van snel aanvangende obesitas op kinderleeftijd, disfunctie van hypothalamus, hypoventilatie, autonome ontregeling-syndroom (aandoening)
syndroom van snel aanvangende obesitas op kinderleeftijd, disfunctie van hypothalamus, hypoventilatie, autonome ontregeling-syndroom
ROHHAD
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.
Id773663004
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE66.8
TermOverige gespecificeerde vormen van vetzucht
TargetE23.3
TermHypothalamusdisfunctie, niet elders geclassificeerd
TargetG90.8
TermOverige gespecificeerde aandoeningen van autonoom zenuwstelsel
TargetR06.8
TermOverige en niet gespecificeerde afwijkingen van ademhaling
SNOMED CT to Orphanet simple map293987
SNOMED CT to ICD-10 extended map
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