syndroom van spastische paraplegie, glaucoom en verstandelijke beperking (aandoening)
	syndroom van spastische paraplegie, glaucoom en verstandelijke beperking
	syndroom van spastische paraplegie, glaucoom en verstandelijke handicap syndroom van spastische paraplegie, glaucoom en mentale retardatie
	Spastic paraplegia, glaucoma, intellectual disability syndrome
	Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.

Id	733455003
Status	Primitive

Associated morphology	degeneratieve afwijking
Finding site	structuur van medulla spinalis

Clinical course

Finding site

Pathological process

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

Interprets

Finding site

Has interpretation	afwezig
Interprets	Movement observable

Finding site

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.4
Term	Hereditaire spastische paraplegie

Target	Q15.0
Term	Congenitaal glaucoom

Target	F79.9
Term	Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen

SNOMED CT to Orphanet simple map

2818

SNOMED CT to ICD-10 extended map

Target	G11.4
Rule	TRUE
Advice	ALWAYS G11.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q15.0
Rule	TRUE
Advice	ALWAYS Q15.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F79.9
Rule	TRUE
Advice	ALWAYS F79.9
Correlation	SNOMED CT source code to target map code correlation not specified