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;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0567270;

UMLS CUI

C1969799;

Automatic exact mappings (from CISMeF team)
- 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]
Currated CISMeF NLP mapping
- Cernunnos-XLF deficiency [ORDO Disease]
Related record
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [MeSH Supplementary 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]

Keyword's position in hierarchy(ies) :

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