Preferred Label : schindler disease, type I;
CISMeF synonym : schindler disease, type II; schindler disease, type III;
MeSH synonym : Alpha-N-acetylgalactosaminidase deficiency, type 1; neuroaxonal dystrophy, schindler type; Alpha-N-Acetylgalactosaminidase deficiency, type I; naga deficiency, type I; angiokeratoma corporis Diffusum-Glycopeptiduria; galb deficiency; lysosomal glycoaminoacid storage Disease-Angiokeratoma corporis diffusum; naga deficiency; neuronal axonal dystrophy, schindler type; schindler disease; schindler disease, type 1; Alpha-Galactosidase B deficiency; Alpha-Galnac deficiency, schindler type; Alpha-N-Acetylgalactosaminidase deficiency; Alpha-Naga deficiency;
Related MeSH term : NAGA Deficiency, Type III; Alpha-N-Acetylgalactosaminidase Deficiency, Type III; Alpha-N-acetylgalactosaminidase deficiency adult onset; Alpha-N-acetylgalactosaminidase deficiency type 2; Schindler disease, type 2; alpha-N-Acetylgalactosaminidase Deficiency, Type II; NAGA deficiency type 2; NAGA Deficiency, Type II; Kanzaki disease; Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset;
Origin ID : C536631;
UMLS CUI : C1836544;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- MeSH term(s) associated for indexing
- Record concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79279
2011
France
scientific and technical information
schindler disease, type I
acetylation
patients
schindler disease, type I
hexosaminidases
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