afwijkend hersenweefsel	arginine-vasopressineresistentie	calcificatie	degeneratieve aandoening van hersenen	genetische aandoening
\|	\|	\|	\|	\|

syndroom van arginine-vasopressineresistentie en intracraniële calcificatie (aandoening)
	syndroom van arginine-vasopressineresistentie en intracraniële calcificatie
	Schofer-Beetz-Bohl-syndroom syndroom van nefrogene diabetes insipidus en intracraniële calcificatie syndroom van Schofer-Beetz-Bohl
	Schofer Beetz Bohl syndrome
	Nephrogenic diabetes insipidus and intracranial calcification syndrome Arginine vasopressin resistance, intracranial calcification, short stature, facial dysmorphism syndrome
	A rare, genetic, renal tubular disease characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.

Id	716200002
Status	Primitive

Associated morphology	pathologische calcificatie
Finding site	structuur van encephalon

Has interpretation	verhoogd
Interprets	observatie betreffende uitscheiding van urine

Finding site

structuur van urinewegstelsel

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	N25.1
Term	Nefrogene diabetes insipidus

Target	G93.8
Term	Overige gespecificeerde hersenaandoeningen

SNOMED CT to Orphanet simple map

3145

SNOMED CT to ICD-10 extended map

Target	N25.1
Rule	TRUE
Advice	ALWAYS N25.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G93.8
Rule	TRUE
Advice	ALWAYS G93.8
Correlation	SNOMED CT source code to target map code correlation not specified