cri-du-chat syndrome

Preferred Label : cri-du-chat syndrome;

MeSH definition : An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).;

MeSH synonym : 5p deletion syndromes; 5p- syndrome; syndrome, 5p deletion; syndromes, crying cat; 5p- syndrome, chromosome; deletion syndrome, 5p; syndromes, chromosome 5p-; syndromes, 5p deletion; chromosome 5p- syndrome; 5p deletion syndrome; chromosome 5p- syndromes; cri-du-chat syndromes; 5p Syndrome; Chromosome 5p Deletion Syndrome; deletion of short arm of chromosome 5 syndrome; syndrome, cri-du-chat; syndromes, cri-du-chat; syndrome, crying cat; chromosome 5 short arm deletion syndrome; deletion syndromes, 5p; 5p- syndromes, chromosome; syndrome, chromosome 5p-; crying cat syndrome; crying cat syndromes; 5p- syndromes; syndrome, 5p-; cri du chat syndrome; 5p minus syndrome; 5p minus syndromes; minus syndrome, 5p; minus syndromes, 5p; syndrome, 5p minus; syndromes, 5p minus; cat cry syndrome; cat cry syndromes; syndrome, cat cry; syndromes, cat cry;

CISMeF synonym : syndromes, 5p-;

Wikipedia link : https://en.wikipedia.org/wiki/Cri du chat syndrome;

Details

Origin ID

D003410;

UMLS CUI

C0010314;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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 [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 [ORDO Disease]
- cri du chat syndrome [Disease (Nov.)]
- monosomy 5p [MeSH Supplementary Concept]
DO Cross reference
- Cri-Du-Chat syndrome [DO Concept]
False automatic mappings
- Phlebitis of leg superficial [MedDRA LLT]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Growth retardation, prenatal and postnatal [HPO term]
- Long, narrow facies [HPO term]
- Poorly formed pinnae [HPO term]
- Speech and language difficulties [HPO term]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with cataract [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
ORDO relation(s)
- Monosomy 5p [ORDO Disease]
Record concept(s)
- Cri-du-Chat syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- chromosome 5, monosomy 5q35 [MeSH Supplementary Concept]
- chromosome 5, trisomy 5p [MeSH Supplementary Concept]
- chromosome 5, trisomy 5pter p13 3 [MeSH Supplementary Concept]
- chromosome 5, trisomy 5q [MeSH Supplementary Concept]
- chromosome 5, uniparental disomy [MeSH Supplementary Concept]
- monosomy 5p [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
See also (suggested by CISMeF)
- chromosome deletion [MeSH Descriptor]
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 [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]
Validated automatic mappings to NTBT
- Deletions of the short arm of chromosome 5 [ICD-11 Sub-sub category]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients