kniest like dysplasia lethal

Preferred Label : kniest like dysplasia lethal;

MeSH synonym : lethal kniest-like dysplasia; arthrosis, flat face, hypotonia, short neck and macrocephaly; Kniest-Like dysplasia, lethal;

Details

Origin ID

C537208;

UMLS CUI

C1855605;

CISMeF manual mappings
- Lethal Kniest-like dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Kniest-like dysplasia, lethal [OMIM Phenotype]
Has phenotype(s) (HPO)
- Abnormality of cardiac conduction [HPO term]
- Broad short ribs [HPO term]
- Flared irregular metaphyses [HPO term]
- Rhizomelic shortening [HPO term]
- Wide vertebral clefts [HPO term]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH Descriptor]
- hyaline membrane disease [MeSH Descriptor]
- neck [MeSH Descriptor]
- polyhydramnios [MeSH Descriptor]
ORDO relation(s)
- Lethal Kniest-like dysplasia [ORDO Disease]
Record concept(s)
- Kniest like dysplasia lethal [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest-like dysplasia, lethal [OMIM Phenotype]
- Lethal Kniest-like dysplasia [ORDO Disease]

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