Hoyeraal-hreidarsson syndrome

Preferred Label : Hoyeraal-hreidarsson syndrome;

Obsolete resource : true;

Moved to : 305000;

Alternative titles and symbols : Cerebellar hypoplasia with pancytopenia; Growth retardation, prenatal, with progressive pancytopenia and cerebellarhypoplasia;

Description : Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in dyskerin (dkc1, 300126.0006);

Prefixed ID : 300240;

Details

Origin ID

300240;

UMLS CUI

C1846142;

Automatic exact mappings (from CISMeF team)
- Department of Health and Human Services [NCIt concept]
Currated CISMeF NLP mapping
- Hoyeraal Hreidarsson syndrome [Disease (Nov.)]
- Hoyeraal Hreidarsson syndrome [MeSH concept]
- Hoyeraal-Hreidarsson syndrome [ICD-11 More detail]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome (disorder) [SNOMED CT concept]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
HPO term(s)
- Death in early childhood [HPO term]
- Prenatal growth deficiency [HPO term]
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 [ICD-11 More detail]
- Hoyeraal-Hreidarsson syndrome (disorder) [SNOMED CT concept]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]

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