Sea-blue histiocyte disease

Preferred Label : Sea-blue histiocyte disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Histiocytosis, sea-blue; Sea-blue histiocytosis;

Inheritance : Autosomal recessive; ? same as the adult, chronic or B form of Niemann-Pick disease;

Prefixed ID : #269600;

Details

Origin ID

269600;

UMLS CUI

C0036489;

Automatic exact mappings (from CISMeF team)
- Sea-blue histiocytosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Sea-Blue Histiocyte Syndrome [NCIt concept]
- Sea-Blue histiocyte syndrome [MeSH concept]
- Sea-blue histiocyte syndrome (disorder) [SNOMED CT concept]
- Sea-blue histiocytosis [HPO term]
- Sea-blue histiocytosis [ORDO Disease]
- sea blue histiocyte syndrome [Disease (Nov.)]
- sea-blue histiocyte syndrome [SNOMED Notion]
- sea-blue histiocyte syndrome [MeSH Descriptor]
- sea-blue histiocytosis [DO Concept]
DO Cross reference
- sea-blue histiocytosis [DO Concept]
Genes related to phenotype
- Apolipoprotein e [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Absent axillary hair [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Mild thrombocytopenia [HPO term]
- Sea-blue histiocytosis [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Sea-blue histiocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sea-Blue Histiocyte Syndrome [NCIt concept]
- Sea-Blue histiocyte syndrome [MeSH concept]
- Sea-blue histiocyte syndrome (disorder) [SNOMED CT concept]
- Sea-blue histiocytosis [HPO term]
- Sea-blue histiocytosis [ORDO Disease]
- sea blue histiocyte syndrome [Disease (Nov.)]
- sea-blue histiocyte syndrome [SNOMED Notion]
- sea-blue histiocyte syndrome [MeSH Descriptor]
- sea-blue histiocytosis [DO Concept]

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