congenitale afwijking van centraal zenuwstelsel	congenitale degeneratie van zenuwstelsel	hereditaire aandoening van immuunsysteem	hereditaire deficiëntie van stollingsfactor	hereditaire degeneratieve aandoening van centraal zenuwstelsel	lamellaire ichthyose	multipele sclerose
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syndroom van multipele sclerose, ichthyosis en stollingsfactor VIII-deficiëntie (aandoening)
	syndroom van multipele sclerose, ichthyosis en stollingsfactor VIII-deficiëntie
	syndroom van MS, ichthyosis en factor VIII-deficiëntie syndroom van multipele sclerose, ichtyose en factor VIII-deficiëntie
	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
	Syndrome that is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.

Id	733028000
Status	Primitive

Associated morphology	demyelinisatie
Finding site	structuur van centraal zenuwstelsel
Pathological process	afwijkend immuunproces

Associated morphology	demyelinisatie
Finding site	structuur van centraal zenuwstelsel
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	proliferatieve hyperkeratose
Finding site	gehele huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	afwijkend
Interprets	hemostase

Has interpretation	afwijkend
Interprets	keratinisatie

Associated morphology	inflammatoire morfologie
Finding site	structuur van centraal zenuwstelsel
Pathological process	afwijkend immuunproces

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G37.8
Term	Overige gespecificeerde demyeliniserende ziekten van centraal zenuwstelsel

Target	Q80.2
Term	Lamellaire ichthyose

Target	D66
Term	Hereditaire factor VIII-deficiëntie

SNOMED CT to Orphanet simple map

3151

SNOMED CT to ICD-10 extended map

Target	G37.8
Rule	TRUE
Advice	ALWAYS G37.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q80.2
Rule	TRUE
Advice	ALWAYS Q80.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	D66
Rule	TRUE
Advice	ALWAYS D66
Correlation	SNOMED CT source code to target map code correlation not specified