Cri du Chat Syndrome

Preferred Label : Cri du Chat Syndrome;

NCIt synonyms : Cat-Cry Syndrome; 5p Deletion Syndrome;

NCIt related terms : 5p Partial Monosomy Syndrome; Cri-du-Chat Syndrome;

NCIt definition : A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.;

Details

Origin ID

C34518;

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 [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 [ICD-9 code]
- Cri-du-chat syndrome [OMIM Phenotype]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category (who)]
- Monosomy 5p [MeSH concept]
- Monosomy 5p [ORDO Disease]
- 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]
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 [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]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category]
- Deletion of short arm of chromosome 5 [ICD-10 Sub-category (who)]
- 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 NTBT
- Deletions of the short arm of chromosome 5 [ICD-11 Sub-sub category]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 5 [NCIt concept]

Keyword's position in hierarchy(ies) :

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