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Cri-du-Chat Syndrome (CUI C0010314) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0010314

NCI Thesaurus Code: C34518  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or 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.

GARD Definition: Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features. While cri du chat syndrome is a genetic condition, most cases are not inherited. - this information is from GARD/ORDR/NCATS.

CSP Definition: 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; caused by a deletion of the short arm of chromosome 5.

MSH 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-).

Synonyms & Abbreviations: (see Synonym Details)
5p Deletion Syndromes
5p Deletion Syndrome
5p Minus Syndromes
5p Minus Syndrome
5p partial monosomy syndrome (disorder)
5p Partial Monosomy Syndrome
5p Syndrome
5p- Syndrome, Chromosome
5p- Syndromes, Chromosome
5p- Syndromes
5p- Syndrome
Cat Cry Syndromes
Cat cry syndrome
cat's cry syndrome
Cat-Cry Syndrome
CHROMOSOME 05 P SYNDROME
chromosome 5 short arm deletion syndrome
Chromosome 5p Deletion Syndrome
Chromosome 5p- Syndromes
Chromosome 5p- Syndrome
Cri Du Chat Syndrome
Cri-du-Chat Syndrome [Disease/Finding]
Cri-du-Chat Syndromes
Cri-du-chat syndrome
Crying Cat Syndromes
crying cat syndrome
Deletion 5p syndrome
Deletion of Short Arm of Chromosome 5 Syndrome
Deletion of short arm of chromosome 5
DELETION SYNDROME 05P
Deletion Syndrome, 5p
Deletion Syndromes, 5p
Lejeune syndrome
Minus Syndrome, 5p
Minus Syndromes, 5p
Partial deletion of short arm of chromosome 5 syndrome
Syndrome, 5p Deletion
Syndrome, 5p Minus
Syndrome, 5p-
Syndrome, Cat Cry
Syndrome, Chromosome 5p-
Syndrome, Cri-du-Chat
Syndrome, Crying Cat
Syndromes, 5p Deletion
Syndromes, 5p Minus
Syndromes, Cat Cry
Syndromes, Chromosome 5p-
Syndromes, Cri-du-Chat
Syndromes, Crying Cat

External Source Codes: 
NCI Thesaurus Code C34518 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PJ31. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1254-8011 CSP
DISEASE_IDENTIFIER_ID 18041 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D008607 MSH
HAS_GARD_PAGE true GARD
HN 1977; use CRYING CAT SYNDROME 1964-1976 MSH
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Cri-du-chat syndrome ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-12-30T00:00:00 GARD
MDA 19990101 MSH
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-). NDFRT
MESH_DUI D003410 NDFRT
MESH_NAME Cri-du-Chat Syndrome NDFRT
MESH_UI M0005309 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160628 MSH
MN C10.597.606.643.180 MSH
MN C16.131.077.262 MSH
MN C16.131.260.190 MSH
MN C16.320.180.190 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Cri du Chat Syndrome NCI
NUI N0000000872 NDFRT
ORDER_NO 28177 ICD10CM
PM 1977; see CRYING CAT SYNDROME 1964-1976 MSH
PRIMARY_PATH 10011385$10003842$10008804$10010331$Cri du Chat syndrome$Autosomal chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6213/cri-du-chat-syndrome/resources/1 GARD
RXAUI 3094340 RXNORM
RXAUI 3094343 RXNORM
RXAUI 3133295 RXNORM
RXAUI 3133297 RXNORM
RXAUI 3136197 RXNORM
RXAUI 3136198 RXNORM
RXAUI 3136314 RXNORM
RXAUI 3145346 RXNORM
RXAUI 3286951 RXNORM
RXAUI 5038492 RXNORM
RXAUI 5039057 RXNORM
RXCUI 1023918 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 70173007 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q93.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q93.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q93.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q93.4 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PJ31. SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T009917 MSH
TERMUI T009918 MSH
TERMUI T369564 MSH
TERMUI T369565 MSH
TERMUI T369566 MSH
TERMUI T369567 MSH
TERMUI T369568 MSH
TERMUI T751630 MSH
TERMUI T811472 MSH
TERMUI T816821 MSH
TH GHR (2014) MSH
TH NLM (1964) MSH
TH NLM (2000) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0010314

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