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. |
| Id | 773663004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | E66.8 | Term | Overige gespecificeerde vormen van vetzucht |
Target | E23.3 | Term | Hypothalamusdisfunctie, niet elders geclassificeerd |
Target | G90.8 | Term | Overige gespecificeerde aandoeningen van autonoom zenuwstelsel |
Target | R06.8 | Term | Overige en niet gespecificeerde afwijkingen van ademhaling |
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SNOMED CT to Orphanet simple map | 293987 |
SNOMED CT to ICD-10 extended map | Target | E66.2 | Rule | TRUE | Advice | ALWAYS E66.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | E23.3 | Rule | TRUE | Advice | ALWAYS E23.3 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | G90.9 | Rule | TRUE | Advice | ALWAYS G90.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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