griscelli syndrome type 1

Preferred Label : griscelli syndrome type 1;

CISMeF synonym : pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts;

MeSH synonym : griscelli syndrome, cutaneous and neurologic type; griscelli syndrome with neurologic impairment; partial albinism and primary neurologic disease without hemophagocytic syndrome; griscelli syndrome, type 1;

Details

Origin ID

C537301;

UMLS CUI

C1859194;

Currated CISMeF NLP mapping
- Griscelli syndrome type 1 [DO Concept]
- Griscelli syndrome type 1 [ICD-11 More detail]
- Griscelli syndrome type 1 [ORDO Disease]
- Griscelli syndrome, type 1 [OMIM Phenotype]
DO Cross reference
- Griscelli syndrome type 1 [DO Concept]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
- piebaldism [MeSH Descriptor]
- pigmentation disorders [MeSH Descriptor]
ORDO relation(s)
- Griscelli syndrome type 1 [ORDO Disease]
Record concept(s)
- Griscelli syndrome type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli syndrome type 1 [ORDO Disease]
- Griscelli syndrome type 1 [DO Concept]
- Griscelli syndrome, type 1 [OMIM Phenotype]
- Hypopigmentation-immunodeficiency disease type 1 (disorder) [SNOMED CT concept]

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