Partial albinism

Preferred Label : Partial albinism;

ICD-11 definition : Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. It may be associated with neurological (type 1) or haematological (type 2) abnormalities.;

ICD-11 synonym : Griscelli syndrome;

Details

Origin ID

1881966012;

Automatic exact mappings (from CISMeF team)
- Griscelli syndrome [ORDO Disease]
- Griscelli syndrome [MedDRA Preferred Term]
- Griscelli syndrome [OMIM phenotypic series]
- Griscelli syndrome [DO Concept]
- Hypopigmentation-immunodeficiency disease (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Dilution, pigmentary [OMIM Phenotype]
- Partial albinism [HPO term]
- Partial albinism (disorder) [SNOMED CT concept]
- partial albinism [SNOMED Notion]
See also inter- (CISMeF)
- piebaldism [DO Concept]
- piebaldism [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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