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Acheiropodia (CUI C0265559) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0265559

Semantic Type: Congenital Abnormality

GARD Definition: Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the bones of the hands and feet. The condition appears to affect only the extremities, with no other signs and symptoms reported. It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner. Walking may be possible for individuals with acheiropody with well-fitted prostheses. With the exception of a couple of affected individuals in Puerto Rico, all other reported cases have occurred in Brazil. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
Acheiropodia (disorder)
Acheiropodia
Acheiropody, Brazilian type
Acheiropody
ACHP
Agenesis of hands AND feet
Brazilian type acheiropody

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XU17m SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 3132 GARD
DISEASE_IDENTIFIER_ID 3133 GARD
DISEASE_IDENTIFIER_ID 3134 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 0 MSH
GENELOCUS ,7,q,3,6, OMIM
GENESYMBOL ACHP OMIM
GENESYMBOL C7orf2 OMIM
GENESYMBOL LMBR1 OMIM
GENESYMBOL LSS OMIM
GENESYMBOL PPD2 OMIM
GENESYMBOL THYP OMIM
HAS_GARD_PAGE true GARD
HM D005532 MSH
HM D006228 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-09-30T00:00:00 GARD
MDA 20100625 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20121105 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/376/acheiropody/resources/1 GARD
RN 0 MSH
SC 3 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q74.8 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~Q74.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q71.33 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q72.33 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q71.33 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q72.33 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU17m 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 T737966 MSH
TERMUI T737967 MSH
TERMUI T737969 MSH
TERMUI T737970 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=C0265559

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