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Dense, two-surface retrieval over prebuilt Vidul BGE_FT_VA embeddings:
- phenotype_metadata surface -> phenotype-level semantic similarity
- code_evidence surface -> code-level supporting evidence (max over chunks)
A phenotype is a document, not a bag of codes. Each candidate carries both channel
scores, a summary copied from source metadata, and the resolved code set. Ranking
uses the fine-tuned dense retriever.
Startup requires the matching embedding index and model.
"""
from __future__ import annotations
import json
import os
import re
from pathlib import Path
import numpy as np
from . import paths
from .retriever import DenseEmbedder
from .spelling import SpellSuggester
# The config beside the vectors records the query encoding convention.
EMB = paths.PARTA_EMB_DIR
# Optional detail sidecars.
CODE_DESC = paths.CODE_DESCRIPTIONS
ALGO_COMPONENTS = paths.ALGORITHM_COMPONENTS
FACETS = paths.PHENOTYPE_FACETS
BUNDLES = paths.RELATED_BUNDLES
# Algorithm-component fields to surface, in display order (professor 1.4:
# "refer to CIPHER algorithm components"). Only fields present for a phenotype
# are shown; absent fields are omitted.
_ALGO_FIELDS = [
("methods_used", "Methods"),
("related_diseases", "Related diseases"),
("data_period", "Data period"),
("validations", "Validation"),
("adjudication_method", "Adjudication"),
]
def _embedding_convention(config: dict) -> dict:
"""Return the build-time query contract; never invent missing defaults."""
required = ("model", "pooling", "query_prefix", "max_seq_length")
missing = [key for key in required if key not in config]
if missing:
raise RuntimeError(
"Phenotype embedding config is missing its encoding convention: "
+ ", ".join(missing))
return {key: config[key] for key in required}
def _method_label(value: str) -> str:
return "Rule-based" if value.lower().startswith("rules-based") else value
# CIPHER public phenotype library. Detail page:
# /web/cipher/phenotype-viewer?uqid={uqid}&name={slug}
# where slug = the full name with every non-alphanumeric char replaced by '_'.
# uqid comes from the cipher_links sidecar (present for ~79% of phenotypes);
# the rest fall back to the library root. Domain overridable for other deployments.
CIPHER_BASE = os.environ.get("ENCODE_CIPHER_BASE", "https://phenomics.va.ornl.gov").rstrip("/")
CIPHER_LINKS = paths.CIPHER_LINKS
# Friendly stand-ins so a still-unresolved code never shows the raw
# 'unsupported_code_system' token (professor feedback 1.1). (label, source)
_UNRESOLVED_NOTE = {
466: ("Medication code", "needs_vocab:RxNorm/NDC"),
467: ("LOINC lab code", "needs_vocab:LOINC"),
471: ("OMOP concept ID", "needs_vocab:OMOP"),
465: ("VA clinic stop code", "needs_vocab:VA_STOP"),
468: ("Study-defined variable", "study_specific"),
519: ("Study-defined variable", "study_specific"),
}
# Model-independent state an engine can borrow from another one: the phenotype
# records and every detail sidecar. Only the vectors and the query encoder
# belong to a model.
_SHARED_STATE = ("phenotypes", "_suggester", "code_desc", "cipher_uqid",
"algo_components", "facets", "related_bundles")
class EncodeEngine:
def __init__(self, emb_dir: Path | str | None = None,
shared: "EncodeEngine | None" = None):
"""`shared` lends its phenotype records and sidecars, so a comparison
model costs its vectors and encoder, not a second parse of the corpus."""
emb = Path(emb_dir) if emb_dir else EMB
self.emb_dir = emb
if not (emb / "config.json").exists():
raise RuntimeError(f"Missing runtime phenotype embeddings: {emb}")
self.config = json.loads((emb / "config.json").read_text())
convention = _embedding_convention(self.config)
if shared is not None:
for name in _SHARED_STATE:
setattr(self, name, getattr(shared, name))
else:
self._load_runtime_state()
self._load_vectors(emb)
# Query embedder must match how the documents were encoded (model +
# pooling + prefix + max-seq all travel in config.json).
#
# ENCODE_PARTA_MODEL repoints the query encoder for the default vector
# set (the Space image uses it to load local weights instead of the
# hub). It applies only to the default vectors because queries and
# documents must use the same model.
override = os.environ.get("ENCODE_PARTA_MODEL") if emb.resolve() == EMB.resolve() else None
if override or "model_id" not in self.config or self.config["model_id"] == "bge_ft_va":
model_name = override or convention["model"]
self.model_name = model_name
self.embedder = DenseEmbedder(
model_name,
pooling=convention["pooling"],
query_prefix=convention["query_prefix"],
max_seq_length=convention["max_seq_length"])
else:
# Built by scripts/build_model_vectors.py: weights resolve under the
# outputs tree and an adapter or weight precision may apply.
self.model_name = self.config["model_id"]
self.embedder = DenseEmbedder.from_config(self.config)
def _load_runtime_state(self) -> None:
self.phenotypes = {}
for line in paths.CANONICAL_PHENOTYPES.open():
r = json.loads(line)
self.phenotypes[r["phenotype_id"]] = r
# "Did you mean" vocabulary from the phenotype text itself.
self._suggester = SpellSuggester(
text for p in self.phenotypes.values()
for text in (p.get("title"), p.get("description"), *(p.get("keywords") or [])))
# Part B: resolved code descriptions + algorithm components (optional sidecars).
self.code_desc = {}
if CODE_DESC.exists():
for line in CODE_DESC.open():
r = json.loads(line)
self.code_desc[f"{r['code_type_id']}|{r['sub_type_id']}|{(r['code'] or '').upper()}"] = r
self.cipher_uqid = {}
if CIPHER_LINKS.exists():
for line in CIPHER_LINKS.open():
r = json.loads(line)
self.cipher_uqid[r["phenotype_id"]] = r["uqid"]
# Extracted CIPHER algorithm components (methods / related diseases /
# validation / adjudication / data period); one record per phenotype.
self.algo_components = {}
if ALGO_COMPONENTS.exists():
for line in ALGO_COMPONENTS.open():
r = json.loads(line)
self.algo_components[r["phenotype_id"]] = r
# Offline facet extraction (evidence-or-abstain); enum values reach the
# payload only when the source stated them, never inferred.
self.facets = {}
if FACETS.exists():
for line in FACETS.open():
r = json.loads(line)
self.facets[r["phenotype_id"]] = r.get("facets") or {}
# Related-concept bundles (search seeds, never codes).
self.related_bundles = {}
if BUNDLES.exists():
for line in BUNDLES.open():
r = json.loads(line)
self.related_bundles[r["phenotype_id"]] = r
def _load_vectors(self, emb: Path) -> None:
# Metadata surface: one row per phenotype, aligned to meta_ids.
self.meta_ids: list[int] = json.loads((emb / "metadata_ids.json").read_text())
self.meta_mat = np.load(emb / "metadata.npy").astype(np.float32)
self._row = {pid: i for i, pid in enumerate(self.meta_ids)}
# Code surface: many rows per phenotype; map each to its phenotype row.
code_meta = json.loads((emb / "code_meta.json").read_text())
self.code_mat = np.load(emb / "code.npy").astype(np.float32)
self._code_row = np.array([self._row.get(m["phenotype_id"], -1) for m in code_meta])
# Per-phenotype filters aligned to meta_ids.
self._cat = np.array([self.phenotypes[p].get("category") or "(none)" for p in self.meta_ids])
self._validated = np.array([bool(self.phenotypes[p].get("validated")) for p in self.meta_ids])
def categories(self) -> list[str]:
return sorted(set(self._cat.tolist()))
# -- retrieval ---------------------------------------------------------
def search(self, query: str, k: int = 10, categories: set[str] | None = None,
validated_only: bool = False) -> dict:
q = self.embedder.encode([query])[0]
meta_score = self.meta_mat @ q # (n_pheno,)
# Max code-evidence similarity aggregated to phenotype level.
code_sims = self.code_mat @ q # (n_code,)
code_score = np.zeros(len(self.meta_ids), dtype=np.float32)
valid = self._code_row >= 0
np.maximum.at(code_score, self._code_row[valid], code_sims[valid])
retrieval = 0.5 * meta_score + 0.5 * code_score # bi-encoder candidate score
mask = np.ones(len(self.meta_ids), dtype=bool)
if categories:
mask &= np.isin(self._cat, list(categories))
if validated_only:
mask &= self._validated
candidates = np.flatnonzero(mask)
results = []
if len(candidates):
candidate_scores = retrieval[candidates]
for j in np.argsort(candidate_scores)[::-1][:k]:
i = candidates[j]
results.append(self._result(self.meta_ids[i], float(meta_score[i]),
float(code_score[i]),
float(candidate_scores[j])))
return {
"query": query,
"model": self.model_name,
"count": len(results),
"suggestion": self._suggester.suggest(query.strip()),
"results": results,
}
def _result(self, pid, m, c, relevance) -> dict:
p = self.phenotypes[pid]
evidence = [
{"code_system": g.get("code_type_label"),
"code_count": g.get("code_count") or len(g.get("codes", [])),
"samples": [x.get("code") for x in g.get("codes", [])[:6]]}
for g in p.get("associated_code_groups", [])
]
return {
"phenotype_id": pid,
"title": p.get("title"),
"category": p.get("category"),
"validated": p.get("validated"),
"summary": self._summary(p),
"keywords": p.get("keywords") or [],
"scores": {"relevance": round(relevance, 4),
"metadata": round(m, 4), "code_evidence": round(c, 4)},
"code_systems": [e["code_system"] for e in evidence],
"code_evidence": evidence,
"facets": self._facet_payload(pid),
"warnings": [],
}
@staticmethod
def _summary(p: dict) -> str:
"""Return a shortened source description."""
desc = (p.get("description") or p.get("algorithm_description") or "").strip()
if len(desc) > 360:
desc = desc[:360].rsplit(" ", 1)[0] + "…"
return desc
def _algo_component_rows(self, pid: int) -> list[dict]:
"""Format available algorithm components as ordered label/value rows."""
rec = self.algo_components.get(pid)
if not rec:
return []
rows = []
for key, label in _ALGO_FIELDS:
val = rec.get(key)
if not val:
continue
if isinstance(val, list):
values = [str(item) for item in val]
if key == "methods_used":
values = [_method_label(item) for item in values]
text = ", ".join(values)
elif isinstance(val, dict):
text = (f"{val.get('start', '?')} to {val.get('end', '?')}"
if ("start" in val or "end" in val)
else ", ".join(f"{k}: {v}" for k, v in val.items()))
else:
text = str(val)
rows.append({"label": label, "value": text})
return rows
def _cipher_url(self, pid: int, title: str | None) -> str:
uqid = self.cipher_uqid.get(pid)
if uqid:
slug = re.sub(r"[^A-Za-z0-9]", "_", title or "")
return f"{CIPHER_BASE}/web/cipher/phenotype-viewer?uqid={uqid}&name={slug}"
return CIPHER_BASE + "/"
def _code_display(self, code_type_id, sub_type_id,
entry: dict) -> tuple[str | None, str, dict]:
"""Resolve a code to (description, source), replacing 'unsupported_code_system'
when a description exists in the sidecar."""
status = entry.get("label_status")
labels = entry.get("labels") or []
if status in ("exact", "prefix_expanded") and labels:
return labels[0], status, {}
# Both gaps are looked up: a code whose system we had no dictionary for,
# and a code whose system we support but whose label our tables lacked.
if status in ("unsupported_code_system", "label_missing"):
hit = self.code_desc.get(
f"{code_type_id}|{sub_type_id}|{(entry.get('code') or '').upper()}")
if hit:
# Return the recorded match method and release with the label.
extra = {k: hit[k] for k in ("source_version", "match", "concept")
if hit.get(k)}
return hit["description"], hit["source"], extra
if status == "unsupported_code_system":
note = _UNRESOLVED_NOTE.get(code_type_id,
("No standard description", "unresolved"))
return note[0], note[1], {}
return (labels[0] if labels else None), status, {}
# -- detail ------------------------------------------------------------
def _code_graphable(self, ct: int | None, code: str | None) -> bool:
"""Does this specific code have a knowledge-graph? ICD diagnosis (460/461)
resolves to an ICD family; medication terms (466) use a local map or an
exact/normalized RxNAV lookup."""
if ct in (460, 461):
return True
if ct == 466:
return bool((code or "").strip())
return False
def _code_group_detail(self, g: dict) -> dict:
ct, sub = g.get("code_type_id"), g.get("sub_type_id")
codes, resolved = [], 0
for x in g.get("codes", [])[:200]:
desc, source, extra = self._code_display(ct, sub, x)
if desc and source not in ("study_specific", "unresolved", "label_missing") \
and not source.startswith("needs_vocab"):
resolved += 1
codes.append({"code": x.get("code"), "description": desc,
"description_source": source, "label_status": x.get("label_status"),
"graphable": self._code_graphable(ct, x.get("code")), **extra})
return {"code_system": g.get("code_type_label"), "sub_type": g.get("sub_type_label"),
"code_count": g.get("code_count") or len(g.get("codes", [])),
"resolved_count": resolved, "codes": codes,
"graphable": any(c["graphable"] for c in codes)}
def _facet_payload(self, pid: int) -> dict | None:
"""Compact facet view for the UI: stated values only, criteria as text."""
f = self.facets.get(pid)
if not f:
return None
def stated(name):
v = ((f.get(name) or {}).get("value") or "").strip()
return v if v and v != "not_stated" else None
out = {
"age_group": stated("age_group"),
"care_setting": stated("care_setting"),
"incident_vs_prevalent": stated("incident_vs_prevalent"),
"intended_use": stated("intended_use"),
"inclusion": [c.get("criterion") for c in f.get("inclusion") or [] if c.get("criterion")],
"exclusion": [c.get("criterion") for c in f.get("exclusion") or [] if c.get("criterion")],
}
return out if any(out.values()) else None
def phenotype(self, pid: int) -> dict | None:
p = self.phenotypes.get(pid)
if not p:
return None
return {
"phenotype_id": pid,
"algorithm_id": p.get("algorithm_id"),
"title": p.get("title"),
"category": p.get("category"),
"validated": p.get("validated"),
"validation_description": p.get("validation_description"),
"description": p.get("description"),
"algorithm_description": p.get("algorithm_description"),
"keywords": p.get("keywords") or [],
"authors": p.get("authors") or [],
"publications": p.get("publications") or [],
"population_description": p.get("population_description"),
"last_modified": p.get("last_modified"),
"cipher_url": self._cipher_url(pid, p.get("title")),
"algorithm_components": self._algo_component_rows(pid),
"facets": self._facet_payload(pid),
"llm_summary": None,
"related_bundle": self.related_bundles.get(pid),
"code_groups": [self._code_group_detail(g)
for g in p.get("associated_code_groups", [])],
}
# -- phenotype code hierarchy (phecode -> ICD main -> ICD sub) ----------
def phenotype_code_graph(self, pid: int, focus: str | None = None,
cap: int | None = None) -> dict | None:
"""A node+edge tree of the phenotype's diagnosis codes: the phenotype (as
the phecode-level concept) -> each ICD main category (3-char stem) -> the
specific ICD sub-codes under it (460 ICD-9, 461 ICD-10). OMOP concept
groups (471) contribute the ICD codes their concepts resolve to, drawn
in derivation order: phenotype -> OMOP concept -> ICD code. A family
node appears only for families holding directly carried codes; families
still organize ordering, windowing, and overflow for both kinds.
When a code is clicked (`focus`), only its main branch is expanded and
sub-codes are windowed around it. Other branches collapse to a count.
Overflow within a branch is shown as a single "+N more" stub (an edge to a
count, not every node). `path` = the root→main→code chain to highlight."""
p = self.phenotypes.get(pid)
if not p:
return None
# cap=0 disables every window: all categories expand with all codes.
unlimited = cap == 0
BIG = 10 ** 9
FOCUS_SUBS, MAIN_SUBS, MAX_MAINS = (BIG, BIG, BIG) if unlimited else (14, 6, 20)
focus = (focus or "").strip() or None
focus_main = focus.split(".")[0] if focus else None
root = "pheno"
title = p.get("title") or f"Phenotype {pid}"
nodes = [{"id": root, "label": title[:60], "sub": "CIPHER phenotype (phecode)",
"tier": 0, "current": focus is None, "path": True}]
edges, path = [], [root]
note = None
# Pool ICD codes per system across groups. OMOP concept groups (471)
# contribute the ICD-9/10 codes their concepts resolve to (from the
# code-description sidecar); each derived code carries its concept(s)
# so the graph can show why the code is present.
pools: dict[int, dict[str, dict]] = {460: {}, 461: {}}
for g in p.get("associated_code_groups", []):
ct = g.get("code_type_id")
sub_type = g.get("sub_type_id")
if ct in (460, 461):
for x in g.get("codes", []):
code = (x.get("code") or "").strip()
if code:
e = pools[ct].setdefault(code, {"code": code, "x": None,
"sub_type": sub_type, "omop": []})
if e["x"] is None:
e["x"], e["sub_type"] = x, sub_type
elif ct == 471:
for x in g.get("codes", []):
hit = self.code_desc.get(
f"471|{sub_type}|{(x.get('code') or '').upper()}")
concept = (hit or {}).get("concept") or {}
tgt = {"ICD9CM": 460, "ICD10CM": 461}.get(concept.get("system"))
code = (concept.get("code") or "").strip()
if tgt and code:
e = pools[tgt].setdefault(code, {"code": code, "x": None,
"sub_type": None, "omop": []})
cid = concept.get("omop_concept_id") or ""
# The same concept can arrive twice (repeated across
# groups); one node id must be emitted once.
if all(o["id"] != cid for o in e["omop"]):
e["omop"].append({"id": cid,
"name": hit.get("description") or ""})
OMOP_PER_CODE = BIG if unlimited else 2
# OMOP concepts sit between the family and the code: the phenotype
# carries the concept, the concept resolves to the code. Codes carried
# directly skip that column (the renderer bows their edge around it).
has_omop = any(e["omop"] for entries in pools.values()
for e in entries.values())
# Route order is derivation order: the phenotype (phecode level) carries
# OMOP concepts, each concept resolves to one ICD code. With concepts
# present the middle column is the concepts; the family rung is drawn
# only for families holding directly carried codes (no phenotype in the
# corpus mixes the two today). Families still organize ordering,
# windowing, and overflow either way.
code_tier = 2
for ct in (460, 461):
entries = pools[ct]
if not entries:
continue
system = "ICD-9" if ct == 460 else "ICD-10"
by_main: dict[str, list[dict]] = {}
for e in (entries[c] for c in sorted(entries)):
by_main.setdefault(e["code"].split(".")[0], []).append(e)
# focus can be a leaf code (clicked in the drawer) or a main category
# (clicked to expand it) — both expand that main; a leaf also highlights.
group_has_focus = focus is not None and focus_main in by_main
focus_is_leaf = group_has_focus and any(e["code"] == focus for e in by_main[focus_main])
mains = sorted(by_main)
sel_mains = mains[:MAX_MAINS]
if group_has_focus and focus_main not in sel_mains:
sel_mains = sel_mains[:MAX_MAINS - 1] + [focus_main]
if len(mains) > len(sel_mains):
note = "Some categories are truncated."
for cat in sel_mains:
# Namespaced, because a category and one of its codes can be the
# same string: a phenotype whose code list holds the 3-character
# stem "F32" produced a category node and a code node with the
# id "ICD-10:F32", and the two drew on top of each other in the
# same column. The category rung is its own kind of thing and
# gets its own id space.
main_id = f"cat:{system}:{cat}"
subs = by_main[cat]
is_focus_main = group_has_focus and cat == focus_main
# When focused, only the focused branch expands; others collapse.
collapse = focus is not None and not is_focus_main and not unlimited
# A family node stands for its directly carried codes; a family
# whose codes all arrive through OMOP concepts has none, so
# nothing stands between the phenotype and the concepts. When a
# branch collapses under focus it is drawn as a count either
# way — a collapsed branch that drew nothing would make the
# graph lie about what the phenotype holds.
family_node = any(e["x"] is not None for e in subs)
if family_node or collapse:
nodes.append({"id": main_id, "label": cat, "tier": 1, "current": False,
"sub": (f"{system} · {len(subs)} code" + ("s" if len(subs) != 1 else "")
if collapse else f"{system} category"),
"path": is_focus_main, "nav": {"code": cat, "code_type": system}})
edges.append([root, main_id])
if is_focus_main and family_node:
path.append(main_id)
if collapse:
continue
cap = FOCUS_SUBS if is_focus_main else MAIN_SUBS
if is_focus_main and focus_is_leaf and len(subs) > cap: # window around the focus
idx = next(i for i, e in enumerate(subs) if e["code"] == focus)
start = max(0, min(idx - cap // 2, len(subs) - cap))
sel = subs[start:start + cap]
else:
sel = subs[:cap]
for e in sel:
if e["x"] is not None:
desc, _, _extra = self._code_display(ct, e["sub_type"], e["x"])
else:
# Derived from an OMOP concept; the concept name is the
# description of the code it resolves to.
desc = e["omop"][0]["name"]
code = e["code"]
sid = f"{system}:{code}"
is_cur = code == focus
nodes.append({"id": sid, "label": code, "sub": desc or "",
"tier": code_tier, "current": is_cur, "path": is_cur,
"nav": {"code": code, "code_type": system}})
if e["x"] is not None:
edges.append([main_id, sid]) # carried directly
if is_cur:
path.append(sid)
for om in e["omop"][:OMOP_PER_CODE]:
# The route: the phenotype carries the concept, the
# concept resolves to the code.
oid = f"omop:{om['id'] or sid}"
nodes.append({"id": oid, "label": om["id"] or "OMOP",
"sub": om["name"], "tier": 1, "current": False,
"vocab": "OMOP"})
edges.append([root, oid])
edges.append([oid, sid])
if len(e["omop"]) > OMOP_PER_CODE:
om_more = f"more:omop:{sid}"
nodes.append({"id": om_more,
"label": f"+{len(e['omop']) - OMOP_PER_CODE} more",
"sub": "", "tier": 1, "more": True, "vocab": "OMOP"})
edges.append([om_more, sid])
if len(subs) > len(sel): # overflow stub, not every node
more_id = f"more:{main_id}"
nodes.append({"id": more_id, "label": f"+{len(subs) - len(sel)} more",
"sub": "", "tier": code_tier, "more": True})
edges.append([main_id if family_node else root, more_id])
if len(nodes) == 1:
return {"available": False, "kind": "phenotype", "code": str(pid),
"reason": "No ICD code graph for this phenotype."}
return {"available": True, "kind": "phenotype", "code": str(pid), "title": title,
"subtitle": ("Phecode → OMOP concepts → ICD codes"
if has_omop else
"Phecode → ICD main categories → ICD sub-codes"
+ (" (click a category to expand it)" if focus else "")),
"nodes": nodes, "edges": edges, "path": path, "note": note}
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