severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

Preferred Label : severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;

MeSH note : mutation in NHEJ1;

MeSH synonym : SCID, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, and sensitivity to ionizing radiation due to NHEJ1 deficiency; severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency; NHEJ1 syndrome; SCID, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation;

Details

Origin ID

C566970;

UMLS CUI

C1969799;

Automatic exact mappings (from CISMeF team)
- Cernunnos-XLF deficiency [ORDO Disease]
- Immunodeficiency 124, severe combined [OMIM Phenotype]
- Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation [ICD-11 More detail]
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- growth disorders [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- severe combined immunodeficiency [MeSH Descriptor]
Record concept(s)
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cernunnos-XLF deficiency [ORDO Disease]
- Immunodeficiency 124, severe combined [OMIM Phenotype]

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