Chediak-higashi syndrome

Preferred Label : Chediak-higashi syndrome;

Symbol : CHS;

CISMeF acronym : CHS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lysosomal trafficking regulator gene (CHS1, 606897.0001);

Prefixed ID : #214500;

Details

Origin ID

214500;

UMLS CUI

C0007965;

Automatic exact mappings (from CISMeF team)
- Chaplain [NCIt concept]
- Container Dosing Unit [NCIt concept]
- Hypopigmentation-immunodeficiency disease (disorder) [SNOMED CT concept]
- LYST wt Allele [NCIt concept]
- Switzerland [NCIt concept]
- hospitals, psychiatric [MeSH Descriptor]
- lysosomal trafficking regulator [ORDO Gene]
- lysosomal trafficking regulator [HGNC gene]
- naringenin-chalcone synthase activity [GO term]
- psychiatric hospital [CISMeF Querying Strategy]
Currated CISMeF NLP mapping
- Chediak Higashi syndrome [Disease (Nov.)]
- Chediak-Higashi Syndrome [NCIt concept]
- Chediak-Higashi syndrome [DO Concept]
- Chediak-Higashi syndrome [MedDRA Preferred Term]
- Chediak-Higashi syndrome [MeSH concept]
- Chédiak-Higashi syndrome [ICD-11 More detail]
- Chédiak-Higashi syndrome [ORDO Disease]
- Chédiak-Higashi syndrome (disorder) [SNOMED CT concept]
- chediak-higashi syndrome [MeSH Descriptor]
- chediak-higashi syndrome [SNOMED Notion]
DO Cross reference
- Chediak-Higashi syndrome [DO Concept]
False automatic mappings
- China [NCIt concept]
Genes related to phenotype
- Lysosomal trafficking regulator [OMIM gene]
HPO term(s)
- Abnormal dense granules [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Cranial nerve paralysis [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Gait disturbance [HPO term]
- Giant melanosomes in melanocytes [HPO term]
- Giant neutrophil granules [HPO term]
- Gingivitis [HPO term]
- Hemophagocytosis [HPO term]
- Hepatomegaly [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hyporeflexia [HPO term]
- Impaired neutrophil bactericidal activity [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Iris hypopigmentation [HPO term]
- Jaundice [HPO term]
- Leukopenia [HPO term]
- Lymphadenopathy [HPO term]
- Macular hypoplasia [HPO term]
- Muscle weakness [HPO term]
- Neonatal onset [HPO term]
- Neurodegeneration [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Periodontitis [HPO term]
- Photophobia [HPO term]
- Progressive peripheral neuropathy [HPO term]
- Recurrent bacterial skin infections [HPO term]
- Recurrent infections [HPO term]
- Recurrent systemic pyogenic infections [HPO term]
- Reduced visual acuity [HPO term]
- Seizure [HPO term]
- Silver-gray hair [HPO term]
- Splenomegaly [HPO term]
- Spontaneous, recurrent epistaxis [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Tremor [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Chédiak-Higashi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Begnez Cesar disease [MedDRA LLT]
- Chediak Higashi syndrome [Disease (Nov.)]
- Chediak-Higashi Syndrome [NCIt concept]
- Chediak-Higashi syndrome [MedDRA Preferred Term]
- Chediak-Higashi syndrome [MeSH concept]
- Chediak-Higashi syndrome [DO Concept]
- Chédiak-Higashi syndrome [ORDO Disease]
- Chédiak-Higashi syndrome [ICD-11 More detail]
- Chédiak-Higashi syndrome (disorder) [SNOMED CT concept]
- chediak-higashi syndrome [SNOMED Notion]
- chediak-higashi syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients