autosomaal dominante hereditaire aandoening	ernstige obesitas	genetische niet-syndromale obesitas
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vroeg optredende ernstige obesitas met metabool syndroom door deficiëntie van 'Src homology 2B adapter protein 1' (aandoening)
	vroeg optredende ernstige obesitas met metabool syndroom door deficiëntie van SH2B1-deficiëntie
	vroeg optredende ernstige obesitas met insulineresistentiesyndroom door deficiëntie van 'Src homology 2B adapter protein 1' vroeg optredende ernstige obesitas met metabool syndroom door deficiëntie van 'Src homology 2B adapter protein 1'
	Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency
	Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency
	A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.

Id	783556000
Status	Primitive

Has interpretation	boven referentiebereik
Interprets	meetbare observatie betreffende lichaamsgewicht

Occurrence

SNOMED CT to Orphanet simple map

329249

SNOMED CT to ICD-10 extended map

Target	E66.8
Rule	TRUE
Advice	ALWAYS E66.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified