Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Amino acidemia disorder suspected [Identifier] in Dried blood spot NLM Disease characterization
Including Alzheimer's Disease (AD)/AD-Related Dementias (ADRD) diagnosis and multiple chronic conditions (MCCs)
 NIH CDEs
  • ▼ NLM
    • ▼ Newborn Screening
      • ▼ Classification
        • Chemistry

# Datatype

UUID: 2631aa45-5b85-5040-a737-661cad5056af

Value List

# Permissible value Value meaning name Value meaning code Code system name

UUID: f0f911ca-62b5-5a7a-84f1-9dfee4e28413

5-OXO 5-OXO LA12469-5 LOINC

UUID: 26ca7236-87d3-5774-bc08-b50085f8c506

ARG ARG LA12470-3 LOINC

UUID: e6ba4431-9b8b-50bf-87f7-559cbf59b882

ASA ASA LA12471-1 LOINC

UUID: b98bda85-435d-5e25-8a37-e0021af503d2

BIOPT-BS BIOPT-BS LA12472-9 LOINC

UUID: 130405da-f35e-56c3-8d5a-c6f514b62afa

BIOPT-REG BIOPT-REG LA12473-7 LOINC

UUID: 02b07564-b5bd-5930-bc93-26084dfed161

CBL E CBL E LA12480-2 LOINC

UUID: bcf1ceff-e449-5c16-99de-2ff729e9b62f

CIT-I CIT-I LA12482-8 LOINC

UUID: 4cfb7076-c07c-5fee-a9a4-7227498b83f7

CIT-I or CIT-II or ASA CIT-I or CIT-II or ASA LA12569-2 LOINC

UUID: d2edfd5d-af21-5d2e-a2a0-f3dd8e5d6806

CIT-II CIT-II LA12483-6 LOINC

UUID: c29a9502-24f1-58ca-b77f-6597b52c9a2e

CPS CPS LA12484-4 LOINC

UUID: 06334229-614c-56e3-ae80-e9f8b41d43d6

E3 E3 LA12490-1 LOINC

UUID: efb1c9c8-becc-5765-a74e-f72c7456b284

H-PHE H-PHE LA12500-7 LOINC

UUID: da2f4cd6-d1e7-59ec-be94-a85183ed562d

HCY or MET or CBL C HCY or MET or CBL C LA12570-0 LOINC

UUID: 8ac7d185-528a-5dc2-9dd9-ba6a275a6de1

HHH HHH LA12497-6 LOINC

UUID: b478fc6f-0188-51a4-a6d0-cf546a9fed1e

Hyper ORN Hyper ORN LA12502-3 LOINC

UUID: e61872d3-bb4e-5195-a6b8-528325a8f3e5

Hyper VAL Hyper VAL LA12503-1 LOINC

UUID: e9a5820e-282c-5598-bee3-10fa342ae3f7

MET MET LA12512-2 LOINC

UUID: d84b9ba4-a970-5f01-a9ce-fc42cc3810c0

MSUD MSUD LA12513-0 LOINC

UUID: 1631280b-b45f-5deb-b1fb-bc87ace8fbdd

MTHFR MTHFR LA12514-8 LOINC

UUID: a65842cb-9e34-531d-ac07-bd9493c04d67

NKHG NKHG LA12516-3 LOINC

UUID: d5facb27-4f32-55e5-8e05-d744d41c2399

None None LA137-2 LOINC

UUID: b19353d5-0d65-5787-b129-62985ddcc028

OTC OTC LA12518-9 LOINC

UUID: 525b77bf-264f-5479-bc22-2580047e1456

PC PC LA12519-7 LOINC

UUID: 7a1ef23e-12c6-5983-87aa-dd1c70ecf042

PKU PKU LA12520-5 LOINC

UUID: d3b92e55-de39-54b7-a7f6-c8743caeecd6

PKU or BIPT-BS or BIOPT-REG or H-PHE PKU or BIPT-BS or BIOPT-REG or H-PHE LA12571-8 LOINC

UUID: 7651f031-238f-5cc7-9fb2-58b4965142f8

PRO I PRO I LA12521-3 LOINC

UUID: 44016e32-2a91-5ff6-990d-6951f7cd2fca

PRO II PRO II LA12522-1 LOINC

UUID: db4ded86-91f9-59e8-b8e5-5a220dd016bf

TYR-1 TYR-1 LA12528-8 LOINC

UUID: 4fdb70f0-5a88-5c80-b556-975d6da4ade2

TYR-1 or TYR-II or TYR-III TYR-1 or TYR-II or TYR-III LA12572-6 LOINC

UUID: 9d548361-b524-5f22-a77f-dc7ea7e56d07

TYR-II TYR-II LA12529-6 LOINC

UUID: 520281de-d58f-524c-9223-5a963833416e

TYR-III TYR-III LA12530-4 LOINC

# Name Origin Origin Concept type

UUID: 33f1ebf1-1cf6-55f5-a41b-3d432f7f49a9

Prid [Presence or Identity] LOINC - Part - Property LP6850-4 property

UUID: 20097f14-946f-5011-9388-cd03a5903d2f

Pt [Point in time (spot)] LOINC - Part - Time LP6960-1 property

UUID: e6fa9d7d-0e57-559e-ab0d-9d427a7c2cd1

Amino acidemia disorder suspected LOINC - Part - Component LP97725-3 object

UUID: 05618800-aeee-5c69-b32a-62062c4d0d95

Nom LOINC - Part - Scale LP7750-5 property

UUID: 0de9c4e7-1a72-5ca0-9204-c3c21cfe3705

Bld.dot [Dried blood spot] LOINC - Part - System LP21304-8 property

# Designation Tags

UUID: 7a269f49-0ad1-5454-b0d2-cf59f8f6161b

Amino acidemia disorder suspected [Identifier] in Dried blood spot Long Common Name Question Text

UUID: 9cf8e16f-919f-5f79-b04c-d08e7a29fff8

Amino acidemia disorder suspected DBS Shortname

# Identifier Origin Version

UUID: bd14cad0-fb6f-52af-9785-ec23d69873f1

71E_2ygUh7z NLM CDEs 12-02-2025-download

UUID: 6eca123e-170a-56f6-893f-ea2bdb7753b4

57793-2 LOINC 2.56