Hemimelia - CISMeF

Preferred Label : Hemimelia;

NCIt definition : A congenital malformation characterized by the partial or total absence of the distal half of a limb.;

Alternative definition : CDISC: Absence or shortening of the distal segment(s) of limbs. (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.);

Details

Origin ID

C34674;

UMLS CUI

C0018987;

Automatic exact mappings (from CISMeF team)
- Longitudinal deficiency of limb (disorder) [SNOMED CT concept]
- ectromelia [MeSH Descriptor]
Currated CISMeF NLP mapping
- HEMIMELIA [WHO-ART Included Term]
- Hemimelia [ORDO Disease]
- Hemimelia [MedDRA LLT]
- Hemimelia (disorder) [SNOMED CT concept]
- hemimelia [MeSH concept]
- hemimelia, nos [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- HEMIMELIA [WHO-ART Included Term]
- Hemimelia [MedDRA LLT]
- Hemimelia [ORDO Disease]
- Hemimelia (disorder) [SNOMED CT concept]
- hemimelia [MeSH concept]
- hemimelia, nos [SNOMED Notion]
concept_is_in_subset
- CDISC SEND Fetal Pathology Findings Result Terminology [NCIt concept]
- CDISC SEND Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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