T-cell immunodeficiency with thymic aplasia

Preferred Label : T-cell immunodeficiency with thymic aplasia;

Symbol : TIDTA;

CISMeF acronym : TIDTA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : T-lymphocyte deficiency; Immune defect due to absence of thymus; Nezelof syndrome;

Inheritance : Autosomal recessive; some X-linked reports;

Prefixed ID : #242700;

Details

Origin ID

242700;

UMLS CUI

C0152094;

Automatic exact mappings (from CISMeF team)
- T lymphocyte deficiency [DO Concept]
- T-lymphocyte deficiency (finding) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital thymus absence [MedDRA Preferred Term]
- Immunodeficiency due to absence of thymus [ORDO Disease]
- Nezelof syndrome [PASCAL descriptor]
- Nezelof syndrome [DO Concept]
- Nezelof's syndrome [ICD-10 Sub-category]
- Nezelof's syndrome [MedDRA LLT]
- Nezelof's syndrome [ICD-9 code]
- Nezelof's syndrome (disorder) [SNOMED CT concept]
- Nezelofs syndrome [ICD-10 Sub-category (who)]
- Thymic aplasia [MeSH concept]
- Thymic aplasia [ORDO Disease]
- Thymic aplasia [MedDRA LLT]
- immune defect due to absence of thymus [MeSH concept]
- nezelof syndrome [Disease (Nov.)]
- nezelof syndrome [MeSH concept]
- nezelof's syndrome [SNOMED Notion]
- thymic aplasia [MeSH Supplementary Concept]
DO Cross reference
- Nezelof syndrome [DO Concept]
HPO term(s)
- Abnormal T cell morphology [HPO term]
- Aplasia of the thymus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic diarrhea [HPO term]
- Eczematoid dermatitis [HPO term]
- Emphysema [HPO term]
- Failure to thrive [HPO term]
- Hepatosplenomegaly [HPO term]
- Lymphopenia [HPO term]
- Metaphyseal dysostosis [HPO term]
- Pyoderma [HPO term]
- Recurrent bronchopulmonary infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced delayed hypersensitivity [HPO term]
ORDO concept(s)
- Thymic aplasia [ORDO Disease]
See also inter- (CISMeF)
- Nezelof syndrome [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nezelof syndrome [DO Concept]
- Nezelof's syndrome [MedDRA LLT]
- Nezelof's syndrome [ICD-10 Sub-category]
- Nezelof's syndrome [ICD-9 code]
- Nezelof's syndrome (disorder) [SNOMED CT concept]
- immune defect due to absence of thymus [MeSH concept]
- nezelof syndrome [MeSH concept]
- nezelof's syndrome [SNOMED Notion]

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