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089d665 | 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280 281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336 337 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 387 388 389 390 391 392 393 394 395 396 397 398 399 400 401 402 403 404 405 406 407 408 409 410 411 412 413 414 415 416 417 418 419 420 421 422 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 | """LLM-based clinical entity extractor — replaces the regex absorb path.
Robust to PT-BR, sinonímias, negação ("paciente NÃO tem ataxia" should
NOT extract HP:0001251), age qualifiers, family-history vs proband
distinction.
Falls back to the regex extractor (`gemeo.llm_context._HPO_RE` etc.)
when no LLM router is available, so it always produces an answer.
"""
from __future__ import annotations
import json
import logging
from dataclasses import dataclass, field
from typing import Optional
logger = logging.getLogger("gemeo.extractor")
@dataclass
class ClinicalEntities:
"""Structured output of the extractor."""
phenotypes: list = field(default_factory=list) # [{hpo_id, name, status: present|absent|family|past, severity?}]
diseases: list = field(default_factory=list) # [{orpha, name, status: confirmed|suspected|ruled_out}]
genes: list = field(default_factory=list) # [{symbol, variant?, zygosity?, pathogenicity?, status}]
labs: list = field(default_factory=list) # [{test, value, unit, abnormal?, date?}]
medications: list = field(default_factory=list) # [{name, dose?, frequency?, status: current|past|stopped}]
treatments: list = field(default_factory=list) # [{name, type?, response?}]
raw: dict = field(default_factory=dict)
_SYSTEM_PROMPT = (
"You extract structured clinical entities from a clinical message. "
"Return STRICT JSON matching this schema:\n"
"{\n"
' "phenotypes": [{"hpo_id": "HP:NNNNNNN", "name": "...", "status": "present|absent|family|past", "severity": "mild|moderate|severe|null"}],\n'
' "diseases": [{"orpha": "NNNN", "name": "...", "status": "confirmed|suspected|ruled_out"}],\n'
' "genes": [{"symbol": "GENE", "variant": "c.X>Y or null", "zygosity": "het|hom|null", "pathogenicity": "benign|likely_benign|VUS|likely_pathogenic|pathogenic|null", "status": "present|absent"}],\n'
' "labs": [{"test": "AFP", "value": "280", "unit": "ng/mL", "abnormal": true, "date": "YYYY-MM-DD or null"}],\n'
' "medications": [{"name": "IVIG", "dose": "...", "frequency": "...", "status": "current|past|stopped"}],\n'
' "treatments": [{"name": "ERT", "type": "...", "response": "good|partial|poor|null"}]\n'
"}\n"
"Critical rules:\n"
" - Detect NEGATION: 'paciente NÃO tem ataxia' → status='absent'.\n"
" - Detect FAMILY HISTORY: 'irmão com hemofilia' → status='family'.\n"
" - PT-BR synonyms: 'convulsão'→HP:0001250, 'ataxia'→HP:0001251, 'telangiectasia'→HP:0001009.\n"
" - Use STRICT HP/ORPHA codes; if unsure, omit the entity.\n"
" - Empty arrays are fine. NEVER include explanations outside the JSON."
)
def _get_llm():
"""Pick the best available cloud LLM for structured extraction.
Order:
1. llm_router.get_check_llm — Gemini-flash-lite class (fast + cheap, configured for this stack)
2. llm_router.get_orchestrator_llm — Gemini-flash class (mid)
3. Direct ChatGoogleGenerativeAI with GEMINI_API_KEY
Returns the LLM (with .ainvoke) or None if nothing works.
"""
import os
# Tier 1: try the swarm's check llm
try:
from llm_router import get_check_llm
llm = get_check_llm(temperature=0.0)
# filter out the local rarasnet-* models that need a Modal backend
model_attr = getattr(llm, "model_name", None) or getattr(llm, "model", None) or ""
if "rarasnet" not in str(model_attr).lower():
return llm
except Exception as e:
logger.debug(f"get_check_llm unavailable: {e}")
# Tier 2: orchestrator
try:
from llm_router import get_orchestrator_llm
llm = get_orchestrator_llm(temperature=0.0)
model_attr = getattr(llm, "model_name", None) or getattr(llm, "model", None) or ""
if "rarasnet" not in str(model_attr).lower():
return llm
except Exception as e:
logger.debug(f"get_orchestrator_llm unavailable: {e}")
# Tier 3: Gemini direct
api_key = os.environ.get("GEMINI_API_KEY") or os.environ.get("GOOGLE_API_KEY")
if not api_key:
return None
try:
from langchain_google_genai import ChatGoogleGenerativeAI
return ChatGoogleGenerativeAI(
model="gemini-2.5-flash-lite",
google_api_key=api_key,
temperature=0.0,
)
except Exception as e:
logger.debug(f"direct Gemini unavailable: {e}")
return None
_PHRASE_PROMPT = (
"Extract CLINICAL PHRASES (as written, PT-BR ok) from a doctor's free-text case. "
"Do NOT invent HPO/ORPHA codes. Return STRICT JSON:\n"
"{\n"
' "phenotype_phrases": ["ataxia troncular","telangiectasia bulbar","IgA baixa", …],\n'
' "gene_symbols": ["ATM","CFTR"],\n'
' "disease_mentions": ["Ataxia-telangiectasia","ORPHA:100"],\n'
' "labs": [{"test":"AFP","value":"280","unit":"ng/mL","abnormal":true}],\n'
' "medications": [{"name":"…","status":"current|past|stopped"}],\n'
' "negated_phrases": ["sem hepatomegalia"],\n'
' "family_phrases": ["irmão com hemofilia"]\n'
"}\n"
"Rules:\n"
" - One phrase per clinical sign — don't merge multiple findings.\n"
" - Keep PT-BR wording verbatim; downstream KG maps to HPO codes.\n"
" - Negation goes to `negated_phrases`; proband-only signs to `phenotype_phrases`.\n"
" - Family history goes to `family_phrases` (don't double-count as proband).\n"
" - DO NOT include explanations outside the JSON."
)
async def _phrase_extract(message: str) -> Optional[dict]:
"""Step 1: LLM extracts PT-BR clinical phrases (NOT HPO codes).
The phrases are then normalized by `_kg_normalize_phrases` against
the raras-app `phenotype_search` FULLTEXT index. Pipeline:
text → LLM phrases → KG fulltext → HPO codes
This is the DeepRare-style 2-stage approach the user asked for
(proper hpo-brasil pipeline) — the KG already has PT-BR names,
synonyms, cultural-PT variants, and BioLORD embeddings for every
one of the 11.652 Phenotype nodes, so we don't need to ship the
sentence-transformers model + npz inside the orch image.
"""
import os
import httpx
providers = [
("DEEPSEEK_API_KEY", "https://api.deepseek.com/v1/chat/completions", "deepseek-chat"),
("CEREBRAS_API_KEY", "https://api.cerebras.ai/v1/chat/completions", "llama-3.3-70b"),
("GROQ_API_KEY", "https://api.groq.com/openai/v1/chat/completions", "llama-3.3-70b-versatile"),
]
async with httpx.AsyncClient(timeout=45.0) as http:
for env_key, url, model in providers:
key = os.environ.get(env_key)
if not key:
continue
try:
r = await http.post(
url,
json={
"model": model,
"messages": [
{"role": "system", "content": _PHRASE_PROMPT},
{"role": "user", "content": message},
],
"temperature": 0.0,
"response_format": {"type": "json_object"},
},
headers={"Authorization": f"Bearer {key}", "Content-Type": "application/json"},
)
if r.status_code != 200:
continue
txt = (r.json().get("choices") or [{}])[0].get("message", {}).get("content", "").strip()
if txt.startswith("```"):
txt = txt.strip("`")
if txt.lower().startswith("json"): txt = txt[4:]
txt = txt.strip().rstrip("`").rstrip()
s, e = txt.find("{"), txt.rfind("}")
if s >= 0 and e > s:
return json.loads(txt[s : e + 1])
except Exception as exc:
logger.debug(f"phrase extractor {env_key}: {exc}")
continue
return None
async def _kg_normalize_phrases(phrases: list[str], gene_symbols: list[str], status: str = "present") -> dict:
"""Step 2: phrases → HPO via raras-app KG `phenotype_search` FULLTEXT.
Index covers: name, namePt, synonymsPt, culturalSynonymsPt, definitionPt.
Lucene score threshold ≥ 4.0 (empirically: clearly-named phenotypes
score 8-12; weak matches fall below 4).
"""
out_phenos: list[dict] = []
out_genes: list[dict] = []
seen: set[str] = set()
try:
from tools import run_query
except ImportError:
return {"phenotypes": [], "genes": []}
for phrase in phrases[:30]:
try:
rows = await run_query(
"""
CALL db.index.fulltext.queryNodes('phenotype_search', $q)
YIELD node, score
WHERE score >= 4.0
RETURN node.hpoId AS hpo, node.name AS name,
coalesce(node.namePt, node.name) AS name_pt, score
ORDER BY score DESC LIMIT 1
""",
{"q": phrase}, timeout=8.0,
)
except Exception as exc:
logger.debug(f"KG normalize '{phrase}': {exc}")
rows = []
if rows and rows[0].get("hpo") and rows[0]["hpo"] not in seen:
hpo = rows[0]["hpo"]
seen.add(hpo)
out_phenos.append({
"hpo_id": hpo,
"name": rows[0].get("name_pt") or rows[0].get("name") or hpo,
"status": status,
"_source": "kg-fulltext",
"_score": float(rows[0]["score"]),
"_phrase": phrase,
})
# Validate gene symbols against KG so we don't store hallucinated names
for symbol in gene_symbols[:10]:
try:
rows = await run_query(
"MATCH (g:Gene {symbol: $s}) RETURN g.symbol AS symbol LIMIT 1",
{"s": symbol.upper()}, timeout=5.0,
)
if rows:
out_genes.append({"symbol": symbol.upper(), "status": "present"})
except Exception:
pass
return {"phenotypes": out_phenos, "genes": out_genes}
async def _resolve_diseases(mentions: list[str]) -> list[dict]:
"""Map disease mentions → ORPHA via Disease.name fulltext."""
out: list[dict] = []
try:
from tools import run_query
except ImportError:
return out
seen: set[str] = set()
for m in mentions[:6]:
# Explicit ORPHA:NNNN
import re
explicit = re.search(r"ORPHA[:\s]*(\d+)", m, re.I)
if explicit:
orpha = explicit.group(1)
if orpha not in seen:
seen.add(orpha)
out.append({"orpha": orpha, "name": m, "status": "suspected"})
continue
try:
rows = await run_query(
"""
CALL db.index.fulltext.queryNodes('disease_search', $q)
YIELD node, score
WHERE score >= 4.0
RETURN node.orphaCode AS orpha, node.name AS name, score
ORDER BY score DESC LIMIT 1
""",
{"q": m}, timeout=8.0,
)
except Exception:
rows = []
if rows and rows[0].get("orpha") and rows[0]["orpha"] not in seen:
seen.add(rows[0]["orpha"])
out.append({"orpha": rows[0]["orpha"], "name": rows[0]["name"], "status": "suspected"})
return out
async def _llm_extract_direct(message: str) -> Optional[dict]:
"""2-stage extraction: LLM phrases → raras-app KG (hpo-brasil substitute).
The raras-app KG ships PT-BR names + synonyms + cultural variants +
BioLORD embeddings for every Phenotype node — so we get hpo-brasil-
grade normalization without dragging torch + 350MB of model into the
orch image. Diseases resolve via `disease_search` fulltext too.
"""
phrases = await _phrase_extract(message)
if not phrases:
return None
normalized = await _kg_normalize_phrases(
phrases.get("phenotype_phrases", []) or [],
phrases.get("gene_symbols", []) or [],
)
# Family-history & negated phrases get normalized too, with status
# set accordingly. Useful for diff differential later.
family = await _kg_normalize_phrases(phrases.get("family_phrases", []) or [], [], status="family")
negated = await _kg_normalize_phrases(phrases.get("negated_phrases", []) or [], [], status="absent")
diseases = await _resolve_diseases(phrases.get("disease_mentions", []) or [])
logger.info(
f"extractor: kg-normalized {len(normalized['phenotypes'])} phenotypes "
f"+ {len(family['phenotypes'])} family + {len(negated['phenotypes'])} negated "
f"+ {len(diseases)} diseases"
)
return {
"phenotypes": normalized["phenotypes"] + family["phenotypes"] + negated["phenotypes"],
"diseases": diseases,
"genes": normalized["genes"],
"labs": phrases.get("labs", []) or [],
"medications": phrases.get("medications", []) or [],
"treatments": [],
}
async def _llm_extract(message: str) -> Optional[dict]:
"""Try to extract via the configured LLM. Robust to JSON-with-fences output."""
try:
from langchain_core.messages import SystemMessage, HumanMessage
except ImportError:
# No langchain installed (slim orch image) → go direct.
return await _llm_extract_direct(message)
llm = _get_llm()
if llm is None:
return await _llm_extract_direct(message)
try:
msgs = [
SystemMessage(content=_SYSTEM_PROMPT),
HumanMessage(content=f"Extract from this clinical message:\n\n{message}"),
]
resp = await llm.ainvoke(msgs)
text = getattr(resp, "content", None) or str(resp)
text = text.strip()
# Strip ```json ... ``` fences
if text.startswith("```"):
text = text.strip("`")
if text.lower().startswith("json"):
text = text[4:]
text = text.strip()
if text.endswith("```"):
text = text[:-3].strip()
# Extract the JSON object body
start = text.find("{")
end = text.rfind("}")
if start >= 0 and end > start:
text = text[start : end + 1]
return json.loads(text)
except Exception as e:
logger.debug(f"LLM extractor call failed: {e} — trying direct httpx fallback")
return await _llm_extract_direct(message)
def _regex_extract(message: str) -> dict:
"""Fallback: lightweight regex pass."""
from .llm_context import _HPO_RE, _ORPHA_RE, _GENE_RE
hpos = [{"hpo_id": f"HP:{m.group(1)}", "name": f"HP:{m.group(1)}", "status": "present"}
for m in _HPO_RE.finditer(message)]
orphas = [{"orpha": m.group(1), "status": "suspected"} for m in _ORPHA_RE.finditer(message)]
genes = [{"symbol": m.group(1).upper(), "status": "present"} for m in _GENE_RE.finditer(message)]
return {
"phenotypes": hpos, "diseases": orphas, "genes": genes,
"labs": [], "medications": [], "treatments": [],
}
async def extract(message: str) -> ClinicalEntities:
"""Top-level: try LLM, fall back to regex. Always returns ClinicalEntities."""
if not message or not message.strip():
return ClinicalEntities()
raw = await _llm_extract(message)
if raw is None:
raw = _regex_extract(message)
return ClinicalEntities(
phenotypes=raw.get("phenotypes", []) or [],
diseases=raw.get("diseases", []) or [],
genes=raw.get("genes", []) or [],
labs=raw.get("labs", []) or [],
medications=raw.get("medications", []) or [],
treatments=raw.get("treatments", []) or [],
raw=raw,
)
async def absorb(case_id: str, message: str, *, source: str = "user") -> dict:
"""Extract + feed into the twin. Honors negation/family-history flags.
- 'present' phenotypes/genes feed into evolve_gemeo as new_phenotypes/new_genes
- 'absent' / 'family' / 'past' are recorded as metadata only, NOT as patient findings
- 'confirmed' diseases become diagnoses
- 'ruled_out' diseases become rejected hypotheses
"""
if not case_id:
return {"absorbed": False, "reason": "no case_id"}
ents = await extract(message)
new_phenotypes = [
{"hpo_id": p.get("hpo_id"), "name": p.get("name") or p.get("hpo_id"),
"severity": p.get("severity"), "source": source, "status": "extracted"}
for p in ents.phenotypes if p.get("status") == "present" and p.get("hpo_id")
]
new_genes = [
{"symbol": g.get("symbol"), "variant": g.get("variant"),
"zygosity": g.get("zygosity"), "pathogenicity": g.get("pathogenicity"),
"source": source, "status": "extracted"}
for g in ents.genes if g.get("status") == "present" and g.get("symbol")
]
new_labs = [
{"test": l.get("test"), "value": l.get("value"), "unit": l.get("unit"),
"abnormal": l.get("abnormal"), "date": l.get("date"), "source": source}
for l in ents.labs if l.get("test")
]
new_treatments = [
{"name": t.get("name") or m.get("name"), "type": t.get("type"),
"response": t.get("response"), "source": source}
for items in (ents.treatments, ents.medications)
for t in items
for m in [{}] # let mixed lists pass
if (t.get("name") or m.get("name"))
]
try:
from . import core as gcore
if new_phenotypes or new_genes or new_labs or new_treatments:
await gcore.evolve_gemeo(
case_id,
new_phenotypes=new_phenotypes,
new_genes=new_genes,
new_labs=new_labs,
new_treatments=new_treatments,
)
except Exception as e:
logger.warning(f"evolve_gemeo failed during absorb: {e}")
return {"absorbed": False, "error": str(e), "extracted": ents.raw}
return {
"absorbed": True,
"source": source,
"added": {
"phenotypes": len(new_phenotypes),
"genes": len(new_genes),
"labs": len(new_labs),
"treatments": len(new_treatments),
},
"skipped_negated": sum(1 for p in ents.phenotypes if p.get("status") == "absent"),
"skipped_family": sum(1 for p in ents.phenotypes if p.get("status") == "family"),
"extracted": ents.raw,
}
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