Kniest dysplasia

Preferred Label : Kniest dysplasia;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531668;

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]
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]
Related record
- kniest dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- 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]