Langer Mesomelic Dysplasia

Preferred Label : Langer Mesomelic Dysplasia;

NCIt related terms : Langer Syndrome; Langer Type Mesomelic Dysplasia;

NCIt definition : An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs.;

Alternative definition : NICHD: SHOX deficiency due to homozygous mutation(s) in the SHOX gene. This condition is characterized by severe hypoplasia of the radius/ulna and tibia/fibula resulting in extreme short stature.;

Details

Origin ID

C126876;

UMLS CUI

C0432230;

Automatic exact mappings (from CISMeF team)
- De Lange syndrome [PASCAL descriptor]
- De Lange syndrome (disorder) [SNOMED CT concept]
- De Lange's syndrome [MedDRA LLT]
- de lange syndrome [MeSH concept]
- de lange syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Langer mesomelic dysplasia [OMIM Phenotype]
- Langer mesomelic dysplasia [MeSH concept]
- Langer mesomelic dysplasia [ORDO Disease]
- Langer mesomelic dysplasia syndrome (disorder) [SNOMED CT concept]
- Mesomelic dysplasia, Langer type [ICD-11 More detail]
- langer mesomelic dysplasia [MeSH Supplementary Concept]
- langer mesomelic dysplasia syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Langer mesomelic dysplasia [ORDO Disease]
- Langer mesomelic dysplasia [OMIM Phenotype]
- Langer mesomelic dysplasia [MeSH concept]
- Langer mesomelic dysplasia syndrome (disorder) [SNOMED CT concept]
- langer mesomelic dysplasia [MeSH Supplementary Concept]
- langer mesomelic dysplasia syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SHOX Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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