loading...| Preferred Name |
Phocomelia |
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| Synonyms |
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|
| Definitions |
A congenital malformation in which the upper portion of a limb is either shortened or absent. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C34928 |
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| ALT_DEFINITION |
Reduction or absence of proximal portion of limb, with the paws, hands, or feet being closer to the trunk of the body. (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.) |
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| code |
C34928 |
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| Contributing_Source |
CDISC NICHD |
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| definition |
A congenital malformation in which the upper portion of a limb is either shortened or absent. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C77526 http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C124310 |
|
| label |
Phocomelia |
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| Legacy Concept Name |
Phocomelia |
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| Preferred_Name |
Phocomelia |
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| prefixIRI |
NCIT:C34928 |
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| prefLabel |
Phocomelia |
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| Semantic_Type |
Disease or Syndrome Congenital Abnormality |
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| UMLS_CUI |
C0031575 |
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| subClassOf |