hoyeraal hreidarsson syndrome

Preferred Label : hoyeraal hreidarsson syndrome;

MeSH note : Prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia; Growth Retardation, Prenatal, With Progressive Pancytopenia And Cerebellar Hypoplasia;

MeSH synonym : cerebellar hypoplasia with pancytopenia; Hoyeraal-Hreidarsson syndrome;

Details

Origin ID

C536068;

UMLS CUI

C1846142;

Automatic exact mappings (from CISMeF team)
- Charge syndrome [OMIM Phenotype]
- Department of Health and Human Services [NCIt concept]
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
- Hypotrichosis 1 [OMIM Phenotype]
- Tumoral calcinosis, hyperphosphatemic, familial, 1 [OMIM Phenotype]
- X-Linked Dyskeratosis Congenita [NCIt concept]
- sonic hedgehog signaling molecule [ORDO Gene]
Currated CISMeF NLP mapping
- Hoyeraal Hreidarsson syndrome [Disease (Nov.)]
- Hoyeraal-Hreidarsson syndrome [ICD-11 More detail]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome (disorder) [SNOMED CT concept]
- Hoyeraal-hreidarsson syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- dyskeratosis congenita [MeSH Descriptor]
- fetal growth retardation [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
ORDO relation(s)
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
Record concept(s)
- Hoyeraal Hreidarsson syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

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