Metatropic Dysplasia

Preferred Label : Metatropic Dysplasia;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities.;

Details

Origin ID

C175209;

UMLS CUI

C0265281;

Currated CISMeF NLP mapping
- Metatropic dwarfism [MeSH concept]
- Metatropic dwarfism [ICD-11 More detail]
- Metatropic dwarfism [MedDRA LLT]
- Metatropic dysplasia [ORDO Disease]
- Metatropic dysplasia [MedDRA Preferred Term]
- Metatropic dysplasia [OMIM Phenotype]
- Metatropic dysplasia (disorder) [SNOMED CT concept]
- Metatropic dysplasias [ICD-11 More detail]
- metatrophic dysplasia [SNOMED Notion]
- metatropic dwarfism [MeSH Supplementary Concept]
- metatropic dysplasia [DO Concept]
DO Cross reference
- metatropic dysplasia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Metatropic dwarfism [MeSH concept]
- Metatropic dwarfism [MedDRA LLT]
- Metatropic dwarfism [ICD-11 More detail]
- Metatropic dysplasia [OMIM Phenotype]
- Metatropic dysplasia [MedDRA Preferred Term]
- Metatropic dysplasia [ORDO Disease]
- Metatropic dysplasia (disorder) [SNOMED CT concept]
- Metatropic dysplasias [ICD-11 More detail]
- metatrophic dysplasia [SNOMED Notion]
- metatropic dwarfism [MeSH Supplementary Concept]
- metatropic dysplasia [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TRPV4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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