skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Hajdu-Cheney Syndrome (CUI C0917715) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0917715

NCI Thesaurus Code: C84745  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.

GARD Definition: Hajdu-Cheney syndrome is a rare connective tissue disorder characterized by acroosteolysis (the breakdown of the bones in the fingers and the toes), skull deformities, and generalized osteoporosis.  Other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. Most patients have normal intelligence. This condition is inherited in an autosomal dominant fashion and caused by mutations in the NOTCH2 gene.   - this information is from GARD/ORDR/NCATS.

MSH Definition: Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.

Synonyms & Abbreviations: (see Synonym Details)
Acrodentoosteodysplasia
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthro-dento-osteo dysplasia
Arthro-dento-ostéodysplasie
Arthrodentoosteodysplasias
Arthrodentoosteodysplasia
Cheney syndrome
Exner syndrome
Hajdu Cheney Syndrome
Hajdu-Cheney syndrome (disorder)
Hajdu-Cheney Syndrome [Disease/Finding]
Hajdu-Cheney syndrome
HJCYS
Multicentric Osteolyses
Multicentric Osteolysis
Osteolyses, Multicentric
Osteolysis, Multicentric
Serpentine fibula - polycystic kidneys
Serpentine fibula polycystic kidney syndrome
Serpentine fibula syndrome
Serpentine Fibula-Polycystic Kidney Syndrome
SFPKS

External Source Codes: 
NCI Thesaurus Code C84745 (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
CTV3ID X78By SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 18976 GARD
DISEASE_IDENTIFIER_ID 18977 GARD
DISEASE_IDENTIFIER_ID 18978 GARD
DISEASE_IDENTIFIER_ID 2356 GARD
DISEASE_IDENTIFIER_ID 2357 GARD
DISEASE_IDENTIFIER_ID 32200 GARD
DISEASE_IDENTIFIER_ID 32201 GARD
DISEASE_IDENTIFIER_ID 34653 GARD
DISEASE_IDENTIFIER_ID 34654 GARD
DX 20030101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 5 MSH
GENELOCUS ,1,p,1,3,-,p,1,1, OMIM
GENESYMBOL AGS2 OMIM
GENESYMBOL HJCYS OMIM
GENESYMBOL NOTCH2 OMIM
HAS_GARD_PAGE true GARD
HM D031845 MSH
HN 2003; use OSTEOLYSIS, ESSENTIAL 1987-2002 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20020703 MSH
MDA 20100825 MSH
MESH_DEFINITION Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations. NDFRT
MESH_DUI D031845 NDFRT
MESH_NAME Hajdu-Cheney Syndrome NDFRT
MESH_UI M0015540 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20121105 MSH
MMR 20130708 MSH
MN C05.116.099.052.400 MSH
MN C05.116.264.579.052.400 MSH
MN C16.131.621.445 MSH
MN C16.320.355 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 600330 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000011001 NDFRT
PM 2003; see OSTEOLYSIS, ESSENTIAL 1987-2002 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/275/serpentine-fibula-polycystic-kidney-syndrome/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6562/hajdu-cheney-syndrome/resources/1 GARD
RN 0 MSH
RXAUI 3170829 RXNORM
RXAUI 3170830 RXNORM
RXAUI 3210975 RXNORM
RXAUI 3286729 RXNORM
RXAUI 3286931 RXNORM
RXAUI 5930136 RXNORM
RXCUI 1028718 RXNORM
SC 3 MSH
SNOMED_CID 63122002 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS M89.59 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~M89.59 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q78.8 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~Q78.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X78By 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 T029651 MSH
TERMUI T465636 MSH
TERMUI T743080 MSH
TERMUI T743081 MSH
TERMUI T751224 MSH
TERMUI T751225 MSH
TERMUI T803951 MSH
TERMUI T839377 MSH
TH NLM (2003) 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=C0917715

Mainbox Bottom