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Brachydactyly (CUI C0221357) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0221357

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

GARD Definition: Brachydactyly is a general term characterized by disproportionately short fingers and toes. It can occur as an isolated finding or as part of a complex syndrome. Many different types of brachydactyly have been identified. Some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. The underlying genetic cause of most isolated forms of brachydactyly and many of the syndromic forms has been identified. Many of the isolated forms are inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. Treatment depends on the specific type of brachydactyly, but may include plastic surgery, physical therapy and/or ergotherapy. - this information is from GARD/ORDR/NCATS.

HPO Definition: Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely. [HPO:probinson]

MSH Definition: Congenital anomaly of abnormally short fingers or toes.

Synonyms & Abbreviations: (see Synonym Details)
Brachydactylias
Brachydactylia
Brachydactylies
Brachydactylisms
Brachydactylism
Brachydactyly (disorder)
Brachydactyly [Disease/Finding]
Brachydactyly syndrome
BRACHYDACTYLY

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN coordinate IM with FINGERS / abnorm (IM) or TOES / abnorm (IM) MSH
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 900000000000448009 SNOMEDCT_US
CTV3ID X786x SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DX 20120101 MSH
EFFECTIVE_TIME 20070731 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 2012 MSH
IS_RARE false GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-09-03T00:00:00 GARD
MDA 20110624 MSH
MESH_DEFINITION Congenital anomaly of abnormally short fingers or toes. NDFRT
MESH_DUI D059327 NDFRT
MESH_NAME Brachydactyly NDFRT
MESH_UI M0549414 NDFRT
MN C05.660.585.262 MSH
MN C16.131.621.585.262 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000183386 NDFRT
PM 2012 MSH
PRIMARY_PATH 10072883$10028381$10028396$10010331$Brachydactyly$Musculoskeletal and connective tissue disorders of limbs congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 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
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/11913/brachydactyly/resources/1 GARD
RXAUI 4222244 RXNORM
RXAUI 4222245 RXNORM
RXAUI 4222246 RXNORM
RXAUI 4222247 RXNORM
RXCUI 1256122 RXNORM
SID HP:0001189 HPO
SID HP:0001201 HPO
SID HP:0005630 HPO
SID HP:0005657 HPO
SID HP:0005727 HPO
SID HP:0006017 HPO
SID HP:0006128 HPO
SID HP:0100667 HPO
SMQ_TERM_ADDVERSION 16.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 16.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q73.8 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~Q73.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q68.1 | 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~Q68.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X786x SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T776491 MSH
TERMUI T777087 MSH
TERMUI T777088 MSH
TH NLM (2012) 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=C0221357

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