aandoening van zintuiglijke functies	anemie	calcificatie	degeneratieve aandoening van centraal zenuwstelsel	gehoorverlies bij syndroom	laesie van zenuwstelsel	verlaagd aantal erytrocyten	verlaagd hemoglobine	verstandelijke beperking
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syndroom van calcificatie van centraal zenuwstelsel, doofheid, tubulaire acidose en anemie (aandoening)
	syndroom van calcificatie van centraal zenuwstelsel, doofheid, tubulaire acidose en anemie
	Yoshimura-Takeshita-syndroom syndroom van Yoshimura-Takeshita syndroom van verkalking van centraal zenuwstelsel, doofheid, tubulaire acidose en bloedarmoede
	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
	Yoshimura Takeshita syndrome
	A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.

Id	726669007
Status	Primitive

Has interpretation	onder referentiebereik
Interprets	Measurement of total hemoglobin concentration

Has interpretation	onder referentiebereik
Interprets	telling van erytrocyten

Associated morphology	pathologische calcificatie
Finding site	structuur van centraal zenuwstelsel

Pathological process

proces van pathologische ontwikkeling

Interprets

Finding site

structuur van auditief systeem

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G96.8
Term	Overige gespecificeerde aandoeningen van centraal zenuwstelsel

Target	H91.9
Term	Gehoorverlies, niet gespecificeerd

Target	D64.9
Term	Anemie, niet gespecificeerd

SNOMED CT to Orphanet simple map

3240

SNOMED CT to ICD-10 extended map

Target	G93.8
Rule	TRUE
Advice	ALWAYS G93.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G95.8
Rule	TRUE
Advice	ALWAYS G95.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	R62.8
Rule	TRUE
Advice	ALWAYS R62.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H91.9
Rule	TRUE
Advice	ALWAYS H91.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	D64.9
Rule	TRUE
Advice	ALWAYS D64.9
Correlation	SNOMED CT source code to target map code correlation not specified