Hoyeraal-Hreidarsson syndrome

Preferred Label : Hoyeraal-Hreidarsson syndrome;

ICD-11 definition : Hoyeraal-Hreidarsson syndrome is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.;

ICD-11 synonym : Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia;

Details

Origin ID

340127408;

UMLS CUI

C1846142;

Automatic exact mappings (from CISMeF team)
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
Currated CISMeF NLP mapping
- Hoyeraal Hreidarsson syndrome [MeSH concept]
- Hoyeraal Hreidarsson syndrome [Disease (Nov.)]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome (disorder) [SNOMED CT concept]
- Hoyeraal-hreidarsson syndrome [OMIM Phenotype]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hoyeraal Hreidarsson syndrome [MeSH concept]
- Hoyeraal Hreidarsson syndrome [Disease (Nov.)]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome (disorder) [SNOMED CT concept]
- Hoyeraal-hreidarsson syndrome [OMIM Phenotype]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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