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Cockayne Syndrome (CUI C0009207) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0009207

NCI Thesaurus Code: C9460  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.

RADLEX Definition: A syndrome characterized by multiple system abnormalities including dwarfism; photosensitivity disorders; premature aging; and hearing loss. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled dna repair processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; csa) is early childhood onset in the second year of life; type II (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. [MeSH]

GARD Definition: Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.   Cockayne syndrome type 1 (type A) is sometimes called “classic” or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the “severe” or "early-onset" type.  This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.

MSH Definition: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

Synonyms & Abbreviations: (see Synonym Details)
Cockayne syndrome (disorder)
Cockayne Syndrome [Disease/Finding]
Cockayne syndrome
Cockayne's syndrome
Cockayne-Syndrom
Dwarfism-retinal atrophy-deafness syndrome
Progeria Like Syndrome
Progeria-Like Syndromes
Progeria-like syndrome
Progeroid nanism
Syndrome, Cockayne
Syndrome, Progeria-Like

External Source Codes: 
NCI Thesaurus Code C9460 (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
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID PKy61 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2003-06-19 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0977-5812 CSP
DID 1114-9354 CSP
DID 2715-1516 CSP
DISEASE_IDENTIFIER_ID 17914 GARD
DISEASE_IDENTIFIER_ID 17915 GARD
DISEASE_IDENTIFIER_ID 17916 GARD
DISEASE_IDENTIFIER_ID 17917 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D008607 MSH
HAS_GARD_PAGE true GARD
HN 1991(1981); use DWARFISM 1981-1990 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-07-13T00:00:00 GARD
MDA 19800509 MSH
MESH_DEFINITION A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. NDFRT
MESH_DUI D003057 NDFRT
MESH_NAME Cockayne Syndrome NDFRT
MESH_UI M0004689 NDFRT
MMR 20130708 MSH
MN C05.116.099.343.250 MSH
MN C10.574.500.362 MSH
MN C16.131.077.250 MSH
MN C16.320.240.562 MSH
MN C16.320.400.200 MSH
MN C18.452.284.250 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C9460 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000000802 NDFRT
ORIG_STY Genetic condition PDQ
PID 6004 PDQ
PM 1991; see DWARFISM 1981-1990 MSH
PRIMARY_PATH 10009835$10029300$10029299$10010331$Cockayne's syndrome$Neurological disorders congenital NEC$Neurological disorders congenital$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/6122/cockayne-syndrome/resources/1 GARD
RXAUI 3134185 RXNORM
RXAUI 3134186 RXNORM
RXAUI 3223863 RXNORM
RXAUI 5930767 RXNORM
RXAUI 5932057 RXNORM
RXCUI 1021813 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 21086008 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q87.1 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~Q87.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX CHOOSE Q82.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX CHOOSE Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 719819004 | Xeroderma pigmentosum and Cockayne syndrome complex | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q82.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q87.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PKy61 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T008848 MSH
TERMUI T373089 MSH
TERMUI T841130 MSH
TERMUI T841131 MSH
TH GHR (2014) MSH
TH NLM (1981) MSH
TH NLM (2000) 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=C0009207

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