Deletion of short arm of chromosome 5

Preferred Label : Deletion of short arm of chromosome 5;

Inclusion CIM-10 : Cri-du-chat syndrome;

Diag associé à un acte (%) : 100.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q934;

UMLS CUI

C0010314;

Currated CISMeF NLP mapping
- 5p partial monosomy syndrome [SNOMED Notion]
- 5p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Cri du Chat Syndrome [NCIt concept]
- Cri du Chat syndrome [MedDRA Preferred Term]
- Cri du chat syndrome [PASCAL descriptor]
- Cri-Du-Chat syndrome [DO Concept]
- Cri-du-Chat syndrome [MeSH concept]
- Cri-du-chat syndrome [ICD-11 More detail]
- Cri-du-chat syndrome [OMIM Phenotype]
- Cri-du-chat syndrome [ICD-9 code]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category (who)]
- Deletions of the short arm of chromosome 5 [ICD-11 Sub-sub category]
- Monosomy 5p [ORDO Disease]
- Monosomy 5p [MeSH concept]
- cri du chat syndrome [Disease (Nov.)]
- cri-du-chat syndrome [MeSH Descriptor]
- monosomy 5p [MeSH Supplementary Concept]
DO Cross reference
- Cri-Du-Chat syndrome [DO Concept]
Orphanet concepts
- Autosomal monosomy [ORDO Disease]
- Monosomy 5p [ORDO Disease]
- Partial autosomal monosomy [ORDO Disease]
- Partial deletion of the short arm of chromosome 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5p partial monosomy syndrome [SNOMED Notion]
- 5p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Cri du Chat Syndrome [NCIt concept]
- Cri du Chat syndrome [MedDRA Preferred Term]
- Cri-Du-Chat syndrome [DO Concept]
- Cri-du-Chat syndrome [MeSH concept]
- Cri-du-chat syndrome [OMIM Phenotype]
- Cri-du-chat syndrome [ICD-9 code]
- Monosomy 5p [ORDO Disease]
- Partial deletion of the short arm of chromosome 5 [ORDO Disease]
- cri-du-chat syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- cri du chat syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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