cerebrale atrofie	congenitale afwijking van cerebrum	congenitale degeneratie van zenuwstelsel	dwerggroei	folliculaire keratose	hereditaire acantholytische dermatose	hereditaire degeneratieve aandoening van centraal zenuwstelsel	malformatiesyndroom met betrokkenheid van meerdere systemen	X-gebonden hereditaire recessieve aandoening
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syndroom van keratosis follicularis, dwerggroei en cerebrale atrofie (aandoening)
	syndroom van keratosis follicularis, dwerggroei en cerebrale atrofie
	keratosis follicularis-dwerggroei-cerebrale atrofie-syndroom
	Keratosis follicularis, dwarfism, cerebral atrophy syndrome
	Syndrome that is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.

Id	723830005
Status	Primitive

Associated morphology	atrophia
Finding site	structuur van cerebrum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	afwijkend
Interprets	keratinisatie

Associated morphology	acantholyse
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	folliculaire hyperkeratose
Finding site	structuur van folliculus pili
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.1
Term	Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte

SNOMED CT to Orphanet simple map

2339

SNOMED CT to ICD-10 extended map

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified