Autosomal recessive hereditary disorder
Chédiak-Higashi syndrome
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Attenuated Chédiak-Higashi syndrome (disorder)
Attenuated Chédiak-Higashi syndrome
Atypical Chédiak-Higashi syndrome
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
Id720520009
StatusPrimitive
Associated morphologyDecreased melanin pigmentation
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteStructure of immune system
Pathological processPathological developmental process
Pathological processAbnormal immune process
Has interpretationAbnormal
InterpretsHemostatic function
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE70.3
TermAlbinisme
SNOMED CT to ICD-10 extended map
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified