Amelia - CISMeF

Preferred Label : Amelia;

NCIt definition : A congenital malformation characterized by the complete absence of all limbs.;

Origin ID

C34370;

UMLS CUI

C0002447;

Automatic exact mappings (from CISMeF team)
- amelogenin X-linked [ORDO Gene]
Currated CISMeF NLP mapping
- AMELIA [WHO-ART Included Term]
- Amelia [HPO term]
- Amelia [ORDO Disease]
- Amelia [MedDRA LLT]
- Congenital absence of unspecified limb(s) [ICD-10 Sub-category (who)]
- Congenital absence of unspecified limb(s) [ICD-10 Sub-category]
- Congenital complete absence of limb (disorder) [SNOMED CT concept]
- amelia [MeSH concept]
- amelia, nos [SNOMED Notion]
- ectromelia [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- AMELIA [WHO-ART Included Term]
- Amelia [MedDRA LLT]
- Amelia [HPO term]
- Amelia [ORDO Disease]
- Congenital absence of unspecified limb(s) [ICD-10 Sub-category]
- Congenital absence of unspecified limb(s) [ICD-10 Sub-category (who)]
- Congenital complete absence of limb (disorder) [SNOMED CT concept]
- amelia [MeSH concept]
- amelia, nos [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]