Chédiak-Higashi syndrome

Orpha code: 167OMIM code: 214500

Definicja

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

Disease data
Klasyfikacja

Disease

Synonimy
Chédiak-Higashi disease
Choroba Chédiaka i Higashiego
Zespół Chédiaka, Higashiego i Steinbrinka
Chédiak-Higashi-Steinbrink syndrome
Kod ORPHA
167
Kod OMIM
214500
Kod ICD10
E70.3
Kod ICD11
EC23.20

No additional description.

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