Phocomelia of the Lower Limb

Preferred Label : Phocomelia of the Lower Limb;

NCIt synonyms : Phocomelia of Lower Limb;

NCIt definition : A congenital abnormality in which the lower limbs are malformed and shortened with positioning close to the torso.;

Details

Origin ID

C35323;

UMLS CUI

C0265625;

Automatic exact mappings (from CISMeF team)
- Lower limb phocomelia [HPO term]
Currated CISMeF NLP mapping
- phocomelia of lower limb, nos [SNOMED Notion]
False automatic mappings
- Phocomelia of the lower limb (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lower limb phocomelia [HPO term]
- Phocomelia of the lower limb (disorder) [SNOMED CT concept]
- phocomelia of lower limb, nos [SNOMED Notion]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Rare Lesion [NCIt concept]

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