Cri-du-chat syndrome

Preferred Label : Cri-du-chat syndrome;

ICD-11 definition : The cri-du-chat (French for cat's cry) syndrome is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and intellectual deficit.;

ICD-11 synonym : cat cry syndrome; 5p minus syndrome; 5p deletion; Lejeune syndrome;

Details

Origin ID

620584190;

Automatic exact mappings (from CISMeF team)
- Deletion 5p (morphologic abnormality) [SNOMED CT concept]
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-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 [ORDO Disease]
- Monosomy 5p [MeSH concept]
- cri du chat syndrome [Disease (Nov.)]
- cri-du-chat syndrome [MeSH Descriptor]
- monosomy 5p [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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