| Identifier system | ID | Preferred name | Synonyms / notes | Source URL | Publication date |
|---|---|---|---|---|---|
| MONDO | MONDO_0009738 | sialidosis type 2 | Disease entity for severe early-onset NEU1-related sialidosis; congenital/hydropic, infantile, and juvenile forms are subtypes/clinical subdivisions of type II (pqac-00000000, pqac-00000010, pqac-00000011) | https://platform.opentargets.org/disease/MONDO_0009738 | — |
| Orphanet | Orphanet_87876 | sialidosis type II | Orphanet disease entry corresponding to type II sialidosis; congenital (hydropic) form is the prenatal/neonatal severe subtype (pqac-00000000, pqac-00000010, pqac-00000016) | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=87876 | — |
| OMIM / MIM | 256550 | Sialidosis | Core inherited disorder caused by NEU1 deficiency; type II includes congenital/hydropic subtype; review explicitly cites “Sialidosis (MIM #256550)” (pqac-00000016, pqac-00000018) | https://omim.org/entry/256550 | 2018 (review citing MIM) |
| MeSH | Not clearly established for congenital type II as a distinct MeSH term | Sialidosis / Mucolipidosis I (broader indexing may vary) | Literature commonly indexes the broader disorder rather than a separate congenital type II term; use disease-level MeSH with subtype noted in free text (pqac-00000018, pqac-00000020) | https://meshb.nlm.nih.gov/ | — |
| ICD-10 | No specific code identified for congenital type II | Sialidosis type II, congenital (hydropic) subtype | Usually classified under broader lysosomal storage/metabolic disorder categories rather than a unique congenital-type-specific ICD-10 code; verify locally in coding system implementation (pqac-00000010, pqac-00000016) | https://icd.who.int/browse10/2019/en | — |
| ICD-11 | No specific code confirmed from retrieved evidence | Sialidosis type II, congenital (hydropic) subtype | Retrieved evidence supports nomenclature but not a distinct ICD-11 identifier for the congenital subtype; map to broader sialidosis entry if needed after terminology validation (pqac-00000010, pqac-00000011) | https://icd.who.int/ | — |
| Clinical subtype designation | — | congenital sialidosis type II | Also called congenital or hydropic subtype; manifests prenatally and is characterized by ascites, hydrops fetalis, hepatomegaly, and stillbirth or very early death (pqac-00000010, pqac-00000016) | https://doi.org/10.3390/diagnostics8020029 | 2018 |
| Clinical subtype designation | — | sialidosis type II, congenital/hydropic form | Severe neuropathic NEU1-deficiency phenotype within type II; recent preclinical gene-therapy paper uses the same classification framework (pqac-00000011) | https://doi.org/10.1101/2023.11.10.566667 | 2024 |


*Table: This table summarizes the main identifiers and naming conventions for congenital sialidosis type II, linking the congenital/hydropic form to the broader type II disease entity. It is useful for harmonizing OMIM, MONDO, Orphanet, and coding terminology in a disease knowledge base.*