bloom syndrome

Preferred Label : bloom syndrome;

Details

Origin ID

D4-00205;

UMLS CUI

C0005859;

Currated CISMeF NLP mapping
- Bloom Syndrome [NCIt concept]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [DO Concept]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome [OMIM Phenotype]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome (disorder) [SNOMED CT concept]
- bloom syndrome [MeSH Descriptor]
- bloom syndrome [MeSH concept]
ICD-10 exact mapping(s)
- Other specified congenital malformations of skin [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies [ORDO Disease]
- Ectodermal malformation syndrome associated with ocular features [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Genetic photodermatosis [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare photodermatosis [ORDO Disease]
- Tumor of hematopoietic and lymphoid tissues [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Bloom syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bloom Syndrome [NCIt concept]
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome [OMIM Phenotype]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [DO Concept]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome (disorder) [SNOMED CT concept]
- Congenital telangiectatic erythema [MedDRA LLT]
- bloom syndrome [MeSH Descriptor]
- bloom syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

Main resources

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