schindler disease, type II

Preferred Label : schindler disease, type II;

CISMeF synonym : kanzaki disease;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531352;

UMLS CUI

C1836522;

Currated CISMeF NLP mapping
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ICD-11 More detail]
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ORDO Disease]
- Kanzaki disease [OMIM Phenotype]
Has phenotype(s) (HPO)
- Axonal peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
Related record
- 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 [ICD-11 More detail]
- Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder) [SNOMED CT concept]
- Kanzaki disease [OMIM Phenotype]