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Cleidocranial Dysplasia (CUI C0008928) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0008928

NCI Thesaurus Code: C75020  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.

GARD Definition: Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations in the RUNX2 gene. - this information is from GARD/ORDR/NCATS.

NICHD Definition: A rare autosomal dominant condition caused by mutation(s) in the RUNX2 gene, encoding runt-related transcription factor 2. This condition is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.

MSH Definition: Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

Synonyms & Abbreviations: (see Synonym Details)
CCD - Cleidocranial dysplasia
CCD
CLCD - Cleidocranial dysplasia
CLCD
Cleidocranial Digital Dysostoses
Cleidocranial Digital Dysostosis
Cleidocranial Dysostoses
Cleidocranial dysostosis (disorder)
Cleidocranial dysostosis
Cleidocranial Dysplasia [Disease/Finding]
Cleidocranial Dysplasias
Cleidocranial dysplasia
Craniocleidodysostosis
Dysostoses, Cleidocranial Digital
Dysostoses, Cleidocranial
Dysostosis, Cleidocranial Digital
Dysostosis, Cleidocranial
Dysplasia cleidocranial
Dysplasia, Cleidocranial
Dysplasias, Cleidocranial
Marie Sainton Syndrome
Marie-Sainton disease
Marie-Sainton Syndrome
Scheuthauer Marie Sainton Syndrome
Scheuthauer-Marie-Sainton Syndrome
Syndrome, Marie-Sainton
Syndrome, Scheuthauer-Marie-Sainton

External Source Codes: 
NCI Thesaurus Code C75020 (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 PF5y0 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 17903 GARD
DISEASE_IDENTIFIER_ID 17904 GARD
DISEASE_IDENTIFIER_ID 17905 GARD
DISEASE_IDENTIFIER_ID 17906 GARD
DISEASE_IDENTIFIER_ID 30713 GARD
DISEASE_IDENTIFIER_ID 30714 GARD
DX 19850101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,6,p,2,1, OMIM
GENESYMBOL AML3 OMIM
GENESYMBOL CBFA1 OMIM
GENESYMBOL CCD OMIM
GENESYMBOL CLCD OMIM
GENESYMBOL PEBP2A1 OMIM
GENESYMBOL RUNX2 OMIM
HAS_GARD_PAGE true GARD
HN 85; was CLEIDOCRANIAL DYSOSTOSIS 1963-84 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies. NDFRT
MESH_DUI D002973 NDFRT
MESH_NAME Cleidocranial Dysplasia NDFRT
MESH_UI M0004550 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C05.116.099.708.207 MSH
MN C05.660.207.207 MSH
MN C16.131.621.207.207 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Cleidocranial Dysostosis NCI
NUI N0000000794 NDFRT
OL use CLEIDOCRANIAL DYSPLASIA to search CLEIDOCRANIAL DYSOSTOSIS l966-84 MSH
PM 85; was CLEIDOCRANIAL DYSOSTOSIS 1963-84 MSH
PRIMARY_PATH 10075994$10028380$10028396$10010331$Cleidocranial dysostosis$Musculoskeletal and connective tissue disorders of face, neck and jaw congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 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
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6118/cleidocranial-dysplasia/resources/1 GARD
RXAUI 3133830 RXNORM
RXAUI 3133831 RXNORM
RXAUI 3133832 RXNORM
RXAUI 3149560 RXNORM
RXAUI 4222535 RXNORM
RXAUI 4223387 RXNORM
RXAUI 4223823 RXNORM
RXCUI 1024186 RXNORM
SMQ_TERM_ADDVERSION 18.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 18.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 65976001 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q74.0 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~Q74.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q74.0 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~Q74.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PF5y0 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 T008589 MSH
TERMUI T008590 MSH
TERMUI T008591 MSH
TERMUI T782686 MSH
TERMUI T782687 MSH
TERMUI T782688 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (2012) 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=C0008928

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