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Antley-Bixler Syndrome, Autosomal Dominant (CUI C2936791) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C2936791

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

MSH Definition: Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.

Synonyms & Abbreviations: (see Synonym Details)
ABS2
Antley Bixler Syndrome, Autosomal Dominant
Antley Bixler syndrome
Antley-Bixler syndrome (disorder)
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler syndrome
Multisynostotic osteodysgenesis with long bone fractures
Multisynostotic Osteodysgenesis
Osteodysgenesis, multisynostotic with fractures
Osteodysgenesis, Multisynostotic, With Fractures
Osteodysgenesis, Multisynostotic
Syndrome, Antley-Bixler
Syndrome, Trapezoidocephaly-Synostosis
Syndromes, Trapezoidocephaly-Synostosis
Trapezoidcephaly-multiple synostosis
Trapezoidocephaly synostosis syndrome
Trapezoidocephaly-Synostosis Syndromes
Trapezoidocephaly-Synostosis Syndrome

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUHs8 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
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 17327 GARD
DISEASE_IDENTIFIER_ID 17328 GARD
DISEASE_IDENTIFIER_ID 17329 GARD
DISEASE_IDENTIFIER_ID 34160 GARD
EFFECTIVE_TIME 20150131 SNOMEDCT_US
GENELOCUS ,1,0,q,2,6, OMIM
GENESYMBOL BBDS OMIM
GENESYMBOL BEK OMIM
GENESYMBOL CFD1 OMIM
GENESYMBOL FGFR2 OMIM
GENESYMBOL JWS OMIM
GENESYMBOL TK14 OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5826/antley-bixler-syndrome/resources/1 GARD
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q87.0 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~Q87.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q87.5 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 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~Q87.5 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUHs8 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 T702501 MSH
TERMUI T702502 MSH
TERMUI T812161 MSH
TERMUI T812162 MSH
TERMUI T812163 MSH
TERMUI T812164 MSH
TH NLM (2009) MSH
TH NLM (2013) 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=C2936791

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