Phocomelia - CISMeF

Preferred Label : Phocomelia;

NCIt definition : A congenital malformation in which the upper portion of a limb is either shortened or absent.;

Alternative definition : CDISC: 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.);

Details

Origin ID

C34928;

UMLS CUI

C0031575;

Automatic exact mappings (from CISMeF team)
- Congenital absence of upper arm and forearm with hand present [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital complete absence of limb (disorder) [SNOMED CT concept]
- PHOCOMELIA [WHO-ART Included Term]
- Phocomelia [PASCAL descriptor]
- Phocomelia [HPO term]
- Phocomelia [MedDRA LLT]
- Phocomelia [HRDO Sign]
- Phocomelia (disorder) [SNOMED CT concept]
- Phocomelia, unspecified limb(s) [ICD-10 Sub-category]
- ectromelia [MeSH Descriptor]
- phocomelia [MeSH concept]
- phocomelia, nos [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital absence of upper arm and forearm with hand present [ORDO Disease]
- PHOCOMELIA [WHO-ART Included Term]
- Phocomelia [MedDRA LLT]
- Phocomelia [HPO term]
- Phocomelia (disorder) [SNOMED CT concept]
- Phocomelia, unspecified limb(s) [ICD-10 Sub-category]
- phocomelia [MeSH concept]
- phocomelia, 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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