Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation

Preferred Label : Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation;

ICD-11 definition : Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.;

ICD-11 synonym : NHEJ1 syndrome; NHEJ1 - [non-homologous end joining factor] syndrome; Combined immunodeficiency due to Cernunnos protein deficiency;

Détails

Origin ID

813059965;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency 124, severe combined [OMIM Phenotype]
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) [SNOMED CT concept]
- 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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