Batch code crosswalk
ORPHA · OMIM · ICD-10 · ICD-11 · MONDO · MeSH · UMLS · GARD · MedDRA · genes · namesPaste identifiers, one per line, in any mix. You get one table: ORPHAcode, preferred name, type and group, and every cross-reference with Orphanet's mapping qualifier. Codes that map to several ORPHAcodes (ICD-10 usually does) are flagged as ambiguous with every candidate listed, never silently picked.
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Qualifiers (Orphanet): E exact · NTBT ORPHAcode narrower than the target · BTNT ORPHAcode broader than the target · ND not decided · W wrong. For ICD codes the second word is Orphanet's ICD relation: specific, attributed, index or inclusion term. Rows marked with a left bar: amber = one of several candidates, red = not found.
What the crosswalk accepts and how it decides
- Prefixed codes:
ORPHA:558,Orphanet_558,OMIM:154700,ICD-10 Q87.4,ICD11:LD28.01,MONDO:0007947,MeSH:D008382,UMLS:C0024796,GARD:6975,MedDRA:10026829,HGNC:3603,gene:FBN1. - Unprefixed codes are recognised by shape:
Q87.4/Q874(ICD-10),LD28.01(ICD-11),C0024796(UMLS),D008382(MeSH). A bare number is tried as an ORPHAcode and, if six digits, as an OMIM number; if both hit, the row is ambiguous. - Anything else is looked up as a gene symbol and as an exact disease name or synonym in all 12 Orphadata languages (case, accents and punctuation ignored). No fuzzy guessing: a near-miss is reported as not found, with the closest English names in the note.
- "Ambiguous" means more than one current (active) ORPHAcode. Inactive, obsolete, deprecated and historical entries are still listed, greyed, with Orphanet's "moved to"/"referred to" target in the note.
- Excel CSV adds a byte-order mark and quotes every cell, so codes like
0007947keep their zeros.
Disorder cards
One page per ORPHAcode with names in every Orphadata language, definition, classification, genes, inheritance, onset, prevalence and HPO phenotypes. Each card has a stable address, /d/ORPHA-558/.
Phenotype → differential
The ranking compares your terms with Orphanet's phenotype annotations of disorders. It knows nothing about a patient, misses disorders Orphanet has not annotated, and must not be used to make or exclude a diagnosis.
How the score is computed
Phenomizer-style semantic similarity (Köhler et al., 2009), weighted by how often Orphanet says a feature occurs.
Weights are the midpoints of Orphanet's frequency classes. "Exact" means the disorder carries your term; "more specific in disorder" means it carries a descendant of your term (full credit for your term); "via shared ancestor" means the best overlap is a more general term, named in the line. Only disorders with Orphanet HPO annotations can appear. HPO terms are used exactly as released; annotations whose HPO id became an alternative id are mapped to the current term (counts in meta.json).