chondrodysplasia, grebe type

Preferred Label : chondrodysplasia, grebe type;

MeSH synonym : brazilian achondrogenesis; grebe dysplasia; grebe syndrome; acromesomelic dysplasia, grebe type; grebe chondrodysplasia; achondrogenesis, brazilian;

Details

Origin ID

C537915;

UMLS CUI

C0265260;

Automatic exact mappings (from CISMeF team)
- Family Podicipedidae (organism) [SNOMED CT concept]
- grebe, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Acromesomelic dysplasia 2a [OMIM Phenotype]
- Acromesomelic dysplasia, Grebe type [ICD-11 More detail]
- Acromesomelic dysplasia, Grebe type [ORDO Disease]
- Grebe syndrome (disorder) [SNOMED CT concept]
- Grebe type chondrodysplasia [PASCAL descriptor]
- acromesomelic dysplasia, Grebe type [DO Concept]
- grebe syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Short feet [HPO term]
- Short humeri [HPO term]
- Short limb dwarfism [HPO term]
- Stillbirth [HPO term]
- Stillborn or death in infancy [HPO term]
MeSH term(s) associated for indexing
- musculoskeletal abnormalities [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Chondrodysplasia, Grebe type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromesomelic dysplasia 2a [OMIM Phenotype]
- Acromesomelic dysplasia, Grebe type [ORDO Disease]
- Acromesomelic dysplasia, Grebe type [ICD-11 More detail]
- Grebe syndrome (disorder) [SNOMED CT concept]
- acromesomelic dysplasia, Grebe type [DO Concept]
- grebe syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients