Alpha-N-acetylgalactosaminidase deficiency type 1

Preferred Label : Alpha-N-acetylgalactosaminidase deficiency type 1;

ICD-11 definition : Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.;

ICD-11 synonym : NAGA deficiency type 1; Schindler disease; NAGA deficiency type 1 - [Alpha-N-acetylgalactosaminidase deficiency type 1]; Schindler disease type 1;

Détails

Origin ID

1058486825;

UMLS CUI

C1836544;

Currated CISMeF NLP mapping
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) [SNOMED CT concept]
- Schindler disease type 1 [DO Concept]
- Schindler disease, type I [OMIM Phenotype]
- schindler disease, type I [MeSH Supplementary Concept]
- schindler disease, type I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency (disorder) [SNOMED CT concept]
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) [SNOMED CT concept]
- Schindler disease, type I [OMIM Phenotype]
- schindler disease, type I [MeSH concept]
- schindler disease, type I [MeSH Supplementary Concept]

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

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