Diastrophic Dysplasia

Preferred Label : Diastrophic Dysplasia;

NCIt synonyms : DTD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the hitchhiker thumb, resulting from deformity of the first metacarpal.;

Details

Origin ID

C156311;

UMLS CUI

C0220726;

Automatic exact mappings (from CISMeF team)
- DTD [EDAM data]
- Nad(p)h dehydrogenase, quinone 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dysplasia [ICD-11 Sub-sub category]
- Diastrophic dysplasia [OMIM Phenotype]
- Diastrophic dysplasia [PASCAL descriptor]
- Diastrophic dysplasia [ICD-10 Sub-category]
- Diastrophic dysplasia [MeSH concept]
- Diastrophic dysplasia [ORDO Disease]
- Diastrophic dysplasia [MedDRA Preferred Term]
- Diastrophic dysplasia (disorder) [SNOMED CT concept]
- Dystrophic dysplasia [ICD-10 Sub-category (who)]
- diastrophic dysplasia [DO Concept]
- diastrophic dysplasia [SNOMED Notion]
- diastrophic dysplasia [MeSH Supplementary Concept]
- diastrophic dysplasia [Radlex concept]
DO Cross reference
- diastrophic dysplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dysplasia [ICD-10 Sub-category]
- Diastrophic dysplasia [ICD-11 Sub-sub category]
- Diastrophic dysplasia [OMIM Phenotype]
- Diastrophic dysplasia [MeSH concept]
- Diastrophic dysplasia [ORDO Disease]
- Diastrophic dysplasia [PASCAL descriptor]
- Diastrophic dysplasia [MedDRA Preferred Term]
- Diastrophic dysplasia (disorder) [SNOMED CT concept]
- diastrophic dysplasia [DO Concept]
- diastrophic dysplasia [MeSH Supplementary Concept]
- diastrophic dysplasia [Radlex concept]
- diastrophic dysplasia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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