Mucopolysaccharidosis

Preferred Label : Mucopolysaccharidosis;

NCIt definition : A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.;

Alternative definition : ACC/AHA: A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental developmental delay, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.;

Détails

Origin ID

C61259;

UMLS CUI

C0026703;

Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis II [MedDRA Preferred Term]
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis IS [MedDRA LLT]
- Scheie mucopolysaccharidosis [PASCAL descriptor]
- mucopolysaccharidosis I [MeSH Descriptor]
- mucopolysaccharidosis ii [MeSH Descriptor]
- mucopolysaccharidosis iii [MeSH Descriptor]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis [ICD-9 code]
- Mucopolysaccharidosis [PASCAL descriptor]
- Mucopolysaccharidosis [ICD-11 Subcategory]
- Mucopolysaccharidosis [MedDRA Preferred Term]
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis NOS [MedDRA LLT]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category (who)]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category]
- mucopolysaccharidoses [MeSH Descriptor]
- mucopolysaccharidoses [MeSH concept]
- mucopolysaccharidosis [Radlex concept]
- mucopolysaccharidosis [DO Concept]
- mucopolysaccharidosis [Disease (Nov.)]
- mucopolysaccharidosis, nos [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis [MedDRA Preferred Term]
- Mucopolysaccharidosis [ICD-9 code]
- Mucopolysaccharidosis [PASCAL descriptor]
- Mucopolysaccharidosis [LOINC component]
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis NOS [MedDRA LLT]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category]
- Mucopolysaccharidosis, unspecified [ICD-10 Sub-category (who)]
- mucopolysaccharidoses [MeSH concept]
- mucopolysaccharidoses [MeSH Descriptor]
- mucopolysaccharidosis [Radlex concept]
- mucopolysaccharidosis [DO Concept]
- mucopolysaccharidosis [Disease (Nov.)]
- mucopolysaccharidosis, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Abnormality of glycosaminoglycan metabolism [HPO term]
- Disorder of glycosaminoglycan metabolism (disorder) [SNOMED CT concept]
- Disorders of glycosaminoglycan metabolism [ICD-10 category]
- Disorders of glycosaminoglycan metabolism [ICD-10 category (who)]
- metabolic disorders [MedlinePlus Topic]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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