Immunodeficiency 124, severe combined

Preferred Label : Immunodeficiency 124, severe combined;

Symbol : IMD124;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation; Nhej1 syndrome; Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency; Scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency;

Prefixed ID : #611291;

Details

Origin ID

611291;

UMLS CUI

C1969799;

Automatic exact mappings (from CISMeF team)
- Cernunnos-XLF deficiency [ORDO Disease]
- Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation [ICD-11 More detail]
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [MeSH Supplementary Concept]
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [MeSH concept]
Genes related to phenotype
- Nonhomologous end-joining factor 1 [OMIM gene]
ORDO concept(s)
- Cernunnos-XLF deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cernunnos-XLF deficiency [ORDO Disease]
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [MeSH Supplementary Concept]
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [MeSH concept]

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