Reticular Dysgenesis

Preferred Label : Reticular Dysgenesis;

NCIt definition : A rare severe combined immunodeficiency disorder characterized by congenital agranulocytosis, lymphoid tissue and thymic tissue hypoplasia, and lymphopenia. Both cellular and humoral immunities are absent.;

Détails

Origin ID

C27070;

UMLS CUI

C0272167;

Currated CISMeF NLP mapping
- Immunoerythromyeloid hypoplasia [OMIM Phenotype]
- Reticular dysgenesis [MeSH concept]
- Reticular dysgenesis [OMIM Phenotype]
- Reticular dysgenesis [ORDO Disease]
- Reticular dysgenesis (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency [SCID] with reticular dysgenesis [ICD-10 Sub-category]
- Severe combined immunodeficiency with reticular dysgenesis [ICD-11 More detail]
- reticular dysgenesis [DO Concept]
- reticular dysgenesis [Disease (Nov.)]
- reticular dysgenesis [MeSH Supplementary Concept]
- reticular dysgenesis [SNOMED Notion]
DO Cross reference
- reticular dysgenesis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunoerythromyeloid hypoplasia [OMIM Phenotype]
- Reticular dysgenesis [ORDO Disease]
- Reticular dysgenesis [OMIM Phenotype]
- Reticular dysgenesis [MeSH concept]
- Reticular dysgenesis (disorder) [SNOMED CT concept]
- reticular dysgenesis [MeSH Supplementary Concept]
- reticular dysgenesis [DO Concept]
- reticular dysgenesis [Disease (Nov.)]
- reticular dysgenesis [SNOMED Notion]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- AK2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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