Fibrochondrogenesis

Preferred Label : Fibrochondrogenesis;

ICD-11 definition : Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia and is characterized by a distinctive face with protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip.;

Details

Origin ID

1412541453;

UMLS CUI

C0265282;

Currated CISMeF NLP mapping
- Fibrochondrogenesis [ORDO Disease]
- Fibrochondrogenesis [PASCAL descriptor]
- Fibrochondrogenesis [OMIM phenotypic series]
- Fibrochondrogenesis (disorder) [SNOMED CT concept]
- fibrochondrogenesis [DO Concept]
- fibrochondrogenesis [MeSH Supplementary Concept]
- fibrochondrogenesis [MeSH concept]
- fibrochondrogenesis [SNOMED Notion]
- fibrochondrogenesis [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Fibrochondrogenesis [ORDO Disease]
- Fibrochondrogenesis [PASCAL descriptor]
- Fibrochondrogenesis (disorder) [SNOMED CT concept]
- fibrochondrogenesis [DO Concept]
- fibrochondrogenesis [MeSH concept]
- fibrochondrogenesis [MeSH Supplementary Concept]
- fibrochondrogenesis [Disease (Nov.)]
- fibrochondrogenesis [SNOMED Notion]
Validated automatic mappings to BTNT
- Fibrochondrogenesis 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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