Alpha-N-acetylgalactosaminidase deficiency type 2

Preferred Label : Alpha-N-acetylgalactosaminidase deficiency type 2;

ICD-11 definition : Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.;

ICD-11 synonym : Kanzaki disease; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Schindler disease type 2; NAGA deficiency type 2 - [Alpha-N-acetylgalactosaminidase deficiency type 2]; NAGA deficiency type 2;

Détails

Origin ID

266505438;

UMLS CUI

C1836522;

Currated CISMeF NLP mapping
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ORDO Disease]
- Kanzaki disease [OMIM Phenotype]
- schindler disease, type II [MeSH concept]
See also inter- (CISMeF)
- schindler disease, type I [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder) [SNOMED CT concept]
- Kanzaki disease [OMIM Phenotype]
- schindler disease, type II [MeSH concept]

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

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