Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Genetic or chromosomal abnormalities ADNI Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 Other NIA-funded studies
  • ▼ ADNI
    • ▼ CRFNAME: NACC Neuropathology Data Form
      • ▼ TBLNAME: NEUROPATH
        • ▼ FLDNAME: NPCHROM
          • DD_CRF_VERSION: None

# Datatype

UUID: f00497cc-8f93-5a61-a5e8-daf07778711e

Value List

# Permissible value Value meaning name

UUID: 838a486c-2648-595e-891c-751c91b0486b

1 APP mutation

UUID: 7d8378b6-7b66-52ed-b3dc-cdb8bdae6b0d

2 PS1 mutation

UUID: 04776b83-48e4-588a-b007-b12c38b0ad34

3 PS2 mutation

UUID: 004ab7de-2573-5a66-b7f9-a6f979310ce2

4 Tau mutation

UUID: 7debd478-ce79-546d-b787-925509df58e2

5 alpha-Synuclein mutation

UUID: adad543a-dbc2-5041-83aa-0d2ee5d93e9e

6 Parkin mutation

UUID: bda39638-f7cc-581a-867b-4221bf104437

7 PRNP mutation

UUID: 9aca95e4-2e10-51c5-b7c6-160f91a93f86

8 Huntingtin mutation

UUID: 3a0cf1be-1199-5145-89a2-4077a2cade62

9 Notch 3 mutation (CASDASIL)

UUID: 30a6673c-e438-5c86-b6d6-921b917ed56b

10 Otherknown genetic mutation (e.g., Abri, neuroserpin)

UUID: dd723766-93ca-53d3-9513-4c75673d4c87

11 Down syndrome

UUID: 196bbb0c-b1a0-5f8b-a40d-0af8919c18e9

12 Other chromosomal abnormality

UUID: 401b8a45-b096-50de-88c0-a998db36e05d

13 No known genetic

UUID: 9e078825-a3e4-50d4-967b-9d4a94978398

50 Not assessed

UUID: 4cb940db-b7cd-5551-9b9b-a60eaf547b5f

99 Missing/unknown

UUID: 8c3825c1-2cc3-51b7-9721-248fc120821b

chromosomal abnormality chromosomal abnormality

# Identifier Origin Version

UUID: f5625aef-afaf-5793-9993-ab0f3cf26089

NOPHASE_NACC Neuropathology Data Form_NEUROPATH_NPCHROM_NODD_CRF_VERSION ADNI-PHASE+CRFNAME+TBLNAME+FLDNAME+DD_CRF_VERSION ADNI_01-12-2025