T-cell immunodeficiency, congenital alopecia and nail dystrophy

Preferred Label : T-cell immunodeficiency, congenital alopecia and nail dystrophy;

MeSH synonym : pignata guarino syndrome; congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency; T-Cell immunodeficiency, congenital alopecia, and nail dystrophy;

Details

Origin ID

C536781;

UMLS CUI

C1866426;

CISMeF manual mappings
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency due to FOXN1 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [DO Concept]
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [OMIM Phenotype]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- nail diseases [MeSH Descriptor]
- severe combined immunodeficiency [MeSH Descriptor]
Record concept(s)
- T-cell immunodeficiency, congenital alopecia and nail dystrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency due to FOXN1 deficiency [ORDO Disease]
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [OMIM Phenotype]
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients