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Craniosynostosis (CUI C0010278) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0010278

NCI Thesaurus Code: C84655  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull.

RADLEX Definition: Craniosynostosis is a birth defect that causes one or more sutures on a baby's head to close earlier than normal. [NLM]

GARD Definition: Craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the joints between the bones of the skull (called the cranial sutures) before brain growth is complete. The first sign is an abnormally shaped skull; other features can include signs of increased intracranial pressure, developmental delays, intellectual disability, seizures, and blindness, caused by constriction of the growing brain. Closure of a single suture is most common and does not prevent the brain from expanding to a normal volume. When many sutures close prematurely, the skull cannot expand to accommodate the growing brain, leading to increased pressure and impaired development of the brain. Craniosynostosis can be caused by genetic mutations, certain metabolic diseases (such as rickets or an overactive thyroid) or can be associated with other disorders such as microcephaly and hydrocephalus. Treatment generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. - this information is from GARD/ORDR/NCATS.

HPO Definition: Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. [HPO:probinson]

CDISC Definition: Premature closure of cranial sutures with fusion of bone, resulting in small maldeveloped skull; used to describe multiple skull bone fusions. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)

CSP Definition: premature closure of one or more sutures of the skull.

MSH Definition: Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.

Synonyms & Abbreviations: (see Synonym Details)
1 Craniosynostoses, Type
1 Craniosynostosis, Type
Congenital ossification of cranial sutures
Congenital ossification of sutures of skull
Cranial suture synostosis
Craniostenoses
Craniostenosis
Craniostosis
Craniosynostoses [Disease/Finding]
Craniosynostoses, Type 1
Craniosynostoses
Craniosynostose
CRANIOSYNOSTOSIS 1
Craniosynostosis Plagiocephaly
Craniosynostosis syndrome (disorder)
Craniosynostosis Syndrome
Craniosynostosis, Type 1
CRANIOSYNOSTOSIS
Craniosyostosis
CRS1
CRS
CSO - Craniosynostosis
CSO
Early closure of the cranial sutures
Early fusion of cranial sutures
Plagiocephaly, Craniosynostosis
Plagiocephaly, Synostotic
Premature closure of cranial sutures
Premature closure of the cranial sutures
Premature cranial suture closure
Premature fontanel closure
synostosis (cranial)
Synostotic Plagiocephaly
Type 1 Craniosynostoses
Type 1 Craniosynostosis

External Source Codes: 
NCI Thesaurus Code C84655 (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 900000000000020002 SNOMEDCT_US
CITE Playbook RADLEX
Contributing_Source CDISC NCI
Contributing_Source NICHD NCI
CTV3ID XE1Lz 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 0726-0275 CSP
DISEASE_IDENTIFIER_ID 17974 GARD
DISEASE_IDENTIFIER_ID 17975 GARD
DX 19630101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,7,p,2,1, OMIM
GENESYMBOL ACS3 OMIM
GENESYMBOL CRS1 OMIM
GENESYMBOL SCS OMIM
GENESYMBOL TWIST1 OMIM
HAS_GARD_PAGE true GARD
HN OXYCEPHALY was see under CRANIOSYNOSTOSES 1963-78 MSH
HPO_COMMENT Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. HPO
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Acrocephaly ICD10
INCLUSION_TERM Imperfect fusion of skull ICD10
INCLUSION_TERM Oxycephaly ICD10
INCLUSION_TERM Trigonocephaly ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-03-01T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. NDFRT
MESH_DUI D003398 NDFRT
MESH_NAME Craniosynostoses NDFRT
MESH_UI M0005288 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160208 MSH
MN C05.116.099.370.894.232 MSH
MN C05.660.207.240 MSH
MN C05.660.906.364 MSH
MN C16.131.621.207.240 MSH
MN C16.131.621.906.364 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Craniosynostosis NCI
NUI N0000000870 NDFRT
OL use CRANIOSYNOSTOSES to search OXYCEPHALY 1966-78 MSH
ORDER_NO 27997 ICD10CM
PM OXYCEPHALY was see under CRANOPSYNOSTOSES 1963-78 MSH
PRIMARY_PATH 10048907$10028378$10028377$10028395$Premature closure of cranial sutures$Musculoskeletal and connective tissue deformities of skull, face and buccal cavity$Musculoskeletal and connective tissue deformities (incl intervertebral disc disorders)$Musculoskeletal and connective tissue disorders MDR
PRIMARY_PATH 10049889$10028382$10028396$10010331$Craniosynostosis$Musculoskeletal and connective tissue disorders of skull congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PRIMARY_SOC 10028395 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 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/6209/craniosynostosis/resources/1 GARD
REF orcid.org/0000-0001-5889-4463 HPO
RXAUI 3136145 RXNORM
RXAUI 3136146 RXNORM
RXAUI 3136147 RXNORM
RXAUI 3605665 RXNORM
RXAUI 3606220 RXNORM
RXAUI 3606223 RXNORM
RXAUI 5039113 RXNORM
RXCUI 1022726 RXNORM
SID HP:0001365 HPO
SID HP:0004494 HPO
SID HP:0005448 HPO
SID HP:0005457 HPO
SID HP:0005467 HPO
SID HP:0008492 HPO
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_ADDVERSION 14.0 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 57219006 NDFRT
SNOMEDID D4-00C00 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q75.0 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~Q75.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q75.0 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 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~Q75.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE1Lz SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-00C00 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 T009887 MSH
TERMUI T009888 MSH
TERMUI T745834 MSH
TERMUI T770449 MSH
TERMUI T770450 MSH
TERMUI T811471 MSH
TH NLM (1966) MSH
TH NLM (1994) MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C0010278

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