kniest dysplasia

Preferred Label : kniest dysplasia;

MeSH synonym : kniest syndrome; swiss cheese cartilage dysplasia; kniest chondrodystrophy;

Details

Origin ID

C537207;

UMLS CUI

C0265279;

Automatic exact mappings (from CISMeF team)
- Kniest dysplasia [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Kniest Dysplasia [NCIt concept]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [ICD-11 More detail]
- Kniest dysplasia [OMIM Phenotype]
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia (disorder) [Inactive SNOMED CT concept]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [SNOMED Notion]
DO Cross reference
- Kniest dysplasia [DO Concept]
Has phenotype(s) (HPO)
- Hypoplastic pelvic bones [HPO term]
- Low nasal bridge [HPO term]
- Prominent eyes [HPO term]
- Short trunk [HPO term]
- Splayed epiphyses and metaphyses [HPO term]
- short, dumbbell appearance of long bones [HPO term]
MeSH term(s) associated for indexing
- cleft palate [MeSH Descriptor]
- collagen diseases [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- face [MeSH Descriptor]
- hyaline membrane disease [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Kniest dysplasia [ORDO Disease]
Record concept(s)
- Kniest dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest Dysplasia [NCIt concept]
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia [OMIM Phenotype]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [ICD-11 More detail]
- Kniest dysplasia [MedDRA Preferred Term]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients