anauxetic dysplasia

Preferred Label : anauxetic dysplasia;

MeSH synonym : spondylometaepiphyseal dysplasia, menger type; spondylometaepiphyseal dysplasia, anauxetic type;

Details

Origin ID

C538256;

UMLS CUI

C1846796;

Currated CISMeF NLP mapping
- Anauxetic dysplasia [ICD-11 More detail]
- Anauxetic dysplasia [OMIM phenotypic series]
- Anauxetic dysplasia [ORDO Disease]
- Anauxetic dysplasia 1 [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia anauxetic type (disorder) [SNOMED CT concept]
- anauxetic dysplasia [DO Concept]
- anauxetic dysplasia 1 [DO Concept]
Has phenotype(s) (HPO)
- Rhizomelic shortening [HPO term]
- Short stature, severe disproportionate [HPO term]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Anauxetic dysplasia [ORDO Disease]
Record concept(s)
- Anauxetic dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anauxetic dysplasia [ORDO Disease]
- Anauxetic dysplasia [ICD-11 More detail]
- Anauxetic dysplasia 1 [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia anauxetic type (disorder) [SNOMED CT concept]
- anauxetic dysplasia 1 [DO Concept]

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