Sirenomelia - CISMeF

Preferred Label : Sirenomelia;

NCIt related terms : Symmelia;

NCIt definition : A disorder characterized by the malformation of the legs into a single lower limb.;

Alternative definition : CDISC: Any of several degrees of side-to-side fusion of lower extremities and concomitant midline reduction of the pelvis. Soft tissues and long bones, lower paw (feet), and viscera of the pelvis tend to be reduced or absent; anus and external genitalia are often absent. (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

C118455;

UMLS CUI

C0037205;

Automatic exact mappings (from CISMeF team)
- Sacral defect with anterior meningocele [OMIM Phenotype]
- Sirenomelia [ICD-11 Sub-sub category]
- ectromelia [MeSH Descriptor]
Currated CISMeF NLP mapping
- Mermaid syndrome [MedDRA LLT]
- Sirenoform monster (disorder) [Inactive SNOMED CT concept]
- Sirenomelia [ORDO Disease]
- Sirenomelia [MedDRA Preferred Term]
- Sirenomelia [HPO term]
- Sirenomelus [PASCAL descriptor]
- Sirenomelus (disorder) [SNOMED CT concept]
- Sympodia [MedDRA LLT]
- sirenoform monster [SNOMED Notion]
- sirenomelia [MeSH concept]
- sirenomelia sequence [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Mermaid sirenomelia (disorder) [Inactive SNOMED CT concept]
- Mermaid syndrome [MedDRA LLT]
- Sirenoform monster (disorder) [Inactive SNOMED CT concept]
- Sirenomelia [ORDO Disease]
- Sirenomelia [HPO term]
- Sirenomelia [MedDRA Preferred Term]
- Sirenomelia sequence (disorder) [Inactive SNOMED CT concept]
- Sirenomelus (disorder) [SNOMED CT concept]
- Sympodia [MedDRA LLT]
- sirenoform monster [SNOMED Notion]
- sirenomelia [MeSH concept]
- sirenomelia sequence [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]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]

Keyword's position in hierarchy(ies) :

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