0.1.4 - ci-build
This page is part of the MatchSync Implementation Guide (v0.1.4: Release Draft) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
| Official URL: http://fhir.nmdp.org/ig/matchsync/ValueSet/nmdp-disease-codes | Version: 0.1.4 | |||
| Draft as of 2026-04-24 | Computable Name: NMDPDiseaseVS | |||
NMDP disease codes
References
Expansion performed internally based on codesystem CodeSystem - Disease - NMDP v0.1.4 (CodeSystem)
This value set contains 100 concepts
| System | Code | Display (en) | JSON | XML |
http://terminology.nmdp.org/codesystem/disease | ABL | ACUTE BILINEAGE LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | AISA | ACQ IDIOPATH SIDERBLASTIC ANEM | ||
http://terminology.nmdp.org/codesystem/disease | ALD | ADRENOLEUKODYSTROPHY | ||
http://terminology.nmdp.org/codesystem/disease | ALL | ACUTE LYMPHOBLASTIC LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | AMCL | ACUTE MAST CELL LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | AMEGCT | AMEGAKARYOCY/CONGENTIAL THROM | ||
http://terminology.nmdp.org/codesystem/disease | AML | ACUTE MYELOGENOUS LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | ASPGL | ASPARTYL GLUCOSAMINIDASE | ||
http://terminology.nmdp.org/codesystem/disease | AT | ATAXIA-TELANGIECTASIA | ||
http://terminology.nmdp.org/codesystem/disease | AUL | ACUTE UNDIFFERENTIATED LEUK-MO | ||
http://terminology.nmdp.org/codesystem/disease | BGLUD | BETA-GLUCURONIDASE DEFICIENCY | ||
http://terminology.nmdp.org/codesystem/disease | BLSYND | BARE LYMPHOCYTE SYNDROME | ||
http://terminology.nmdp.org/codesystem/disease | BRCA | BREAST CANCER | ||
http://terminology.nmdp.org/codesystem/disease | BTHAL | BETA THALASSEMIA MAJOR | ||
http://terminology.nmdp.org/codesystem/disease | C-HHYP | CARTILAGE-HAIR HYPOPLASIA | ||
http://terminology.nmdp.org/codesystem/disease | CGD | CHRONIC GRANULOMATOUS DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | CID | COMBINED IMMUNODEFICIENCY | ||
http://terminology.nmdp.org/codesystem/disease | CLL | CHRONIC LYMPHOCYTIC LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | CML | CHRONIC MYELOGENOUS LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | CMML | CHRONIC MYELOMONOCYTIC LEUK | ||
http://terminology.nmdp.org/codesystem/disease | CNSCA | CENTRAL NERVOUS SYSTEM TUMORS | ||
http://terminology.nmdp.org/codesystem/disease | DIGRGE | DI GEORGE SYNDROME | ||
http://terminology.nmdp.org/codesystem/disease | ETC | ESSENTIAL THROMOBOCYTHEMIA | ||
http://terminology.nmdp.org/codesystem/disease | EWINGS | EWINGS SARCOMA | ||
http://terminology.nmdp.org/codesystem/disease | FA | FANCONI ANEMIA | ||
http://terminology.nmdp.org/codesystem/disease | FEL | FAMILIAL ERYTHROPHAGOCYTIC | ||
http://terminology.nmdp.org/codesystem/disease | FUCOSI | FUCOSIDOSIS | ||
http://terminology.nmdp.org/codesystem/disease | GAUCHR | GAUCHER'S DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | GLTROM | GLANZMANNS THROMBASTHENIA | ||
http://terminology.nmdp.org/codesystem/disease | GLUCST | GLUCOSE STORAGE DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | HCL | HAIRY CELL LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | HISX | HISTIOCYTOSIS-X | ||
http://terminology.nmdp.org/codesystem/disease | HIV | HIV INFECTION | ||
http://terminology.nmdp.org/codesystem/disease | HL | HODGKINS LYMPHOMA | ||
http://terminology.nmdp.org/codesystem/disease | HPGC | HEMOPHAGOCYTOSIS | ||
http://terminology.nmdp.org/codesystem/disease | HUNTER | HUNTER SYNDROME (MPS-II) | ||
http://terminology.nmdp.org/codesystem/disease | HURLER | HURLER SYNDROME (MPS-IH) | ||
http://terminology.nmdp.org/codesystem/disease | ICELL | I-CELL DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | IMDNP | IMMUNE DEFICIENCY + NEUTROPEN | ||
http://terminology.nmdp.org/codesystem/disease | JCML | JUVENILE CHRONIC MYELOGENOUS | ||
http://terminology.nmdp.org/codesystem/disease | KOSTMN | KOSTMANN'S AGRANULOCYTOSIS | ||
http://terminology.nmdp.org/codesystem/disease | KRABBE | KRABBE DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | LAD | LEUKOCYTE ADHESION DEFICIENCY | ||
http://terminology.nmdp.org/codesystem/disease | LN | LESCH-NYHAN | ||
http://terminology.nmdp.org/codesystem/disease | LNS | LESCH-NYHAN | ||
http://terminology.nmdp.org/codesystem/disease | LYSOST | LYSOSOMAL STORAGE DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | MANNO | MANNOSIDOSIS | ||
http://terminology.nmdp.org/codesystem/disease | MARLAM | MAROTEAUX-LAMY (MPS-VI) | ||
http://terminology.nmdp.org/codesystem/disease | MDS | MYELODYSPLASTIC DISORDER | ||
http://terminology.nmdp.org/codesystem/disease | MFMM | MYELOFIBRO MYELOID METAPLASIA | ||
http://terminology.nmdp.org/codesystem/disease | MLD | METACHROMATIC LEUKODYSTROPHY | ||
http://terminology.nmdp.org/codesystem/disease | MM | MULTIPLE MYELOMA | ||
http://terminology.nmdp.org/codesystem/disease | MORQUA | MORQUIO A - MPS IVA | ||
http://terminology.nmdp.org/codesystem/disease | MORQUB | MORQUIO B - MPS IVB | ||
http://terminology.nmdp.org/codesystem/disease | MORQUO | MORQUIO (MPS-IV) | ||
http://terminology.nmdp.org/codesystem/disease | MPS | MUCOPOLYSACCHARIDOSIS (MPS-V) | ||
http://terminology.nmdp.org/codesystem/disease | N-P | NEIMAN-PICK DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | NB | NEUROBLASTOMA | ||
http://terminology.nmdp.org/codesystem/disease | NCL1 | ENZYME NCL 1 | ||
http://terminology.nmdp.org/codesystem/disease | NCL2 | ENZYME NCL 2 | ||
http://terminology.nmdp.org/codesystem/disease | NEUTAD | NEUTROPHIL ACTIN DEFICIENCY | ||
http://terminology.nmdp.org/codesystem/disease | NEUTD | CHEDIAK-HIGASHI SYNDROME | ||
http://terminology.nmdp.org/codesystem/disease | NHL | NON-HODGKINS LYMPHOMA | ||
http://terminology.nmdp.org/codesystem/disease | OCID | OTHR COMBINED IMMUNODEFICIENCY | ||
http://terminology.nmdp.org/codesystem/disease | OHIS | OTHER HISTIOCYTIC DISORDERS | ||
http://terminology.nmdp.org/codesystem/disease | OIEA | OTH ERYTHROCYT DIFFERENTIATION | ||
http://terminology.nmdp.org/codesystem/disease | OIIS | OTHER IMMUNE SYSTEM | ||
http://terminology.nmdp.org/codesystem/disease | OIMD | OTH INHER METABOLISM DISORD | ||
http://terminology.nmdp.org/codesystem/disease | OIMDL | OTH MUCOLIPIDOSES | ||
http://terminology.nmdp.org/codesystem/disease | OIMDP | OTH MUCOPOLYSACCHARIDOSIS | ||
http://terminology.nmdp.org/codesystem/disease | OIPA | OTH ABNORMALITIES OR PLATELETS | ||
http://terminology.nmdp.org/codesystem/disease | OMDS | OTHER MYELODYSPLASTIC DISORDER | ||
http://terminology.nmdp.org/codesystem/disease | OMF | OTHER MYLEOFIBROSIS/MYLEOSCLER | ||
http://terminology.nmdp.org/codesystem/disease | OMMEN | OMMEN'S SYNDROME | ||
http://terminology.nmdp.org/codesystem/disease | OMS | OTH MALIGNANCY, SPECIFY | ||
http://terminology.nmdp.org/codesystem/disease | OND | OTHER NON-MALIGNANT DISEASE | ||
http://terminology.nmdp.org/codesystem/disease | OOL | OTHER LEUKEMIA SPECIFY | ||
http://terminology.nmdp.org/codesystem/disease | OPCD | OTHER PLASMA CELL DISORDER | ||
http://terminology.nmdp.org/codesystem/disease | OSCID | OTHER SCID | ||
http://terminology.nmdp.org/codesystem/disease | OST | OSTEOPETROSIS | ||
http://terminology.nmdp.org/codesystem/disease | OTHHGP | OTHER HEMOGLOBINOPATHY | ||
http://terminology.nmdp.org/codesystem/disease | PCL | PLASMA CELL LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | PHILLY | PROLYMPHOCYTIC LEUKEMIA | ||
http://terminology.nmdp.org/codesystem/disease | PNH | PAROXYSMAL NOCTURNAL HEMOGLOB | ||
http://terminology.nmdp.org/codesystem/disease | PV | POLYCYTHEMIA VERA | ||
http://terminology.nmdp.org/codesystem/disease | RA | REFRACTORY ANEMIA (RA) | ||
http://terminology.nmdp.org/codesystem/disease | RAEB | REFRACT ANEMIA-EXCESS BLASTS | ||
http://terminology.nmdp.org/codesystem/disease | RAEBIT | REFRACT ANEMIA-EX. BLAST TRAN | ||
http://terminology.nmdp.org/codesystem/disease | RCA | PURE RED CELL APLASIA | ||
http://terminology.nmdp.org/codesystem/disease | RCC | RENAL CELL CARCINOMA | ||
http://terminology.nmdp.org/codesystem/disease | RETDG | RETICULAR DYSGENESIS | ||
http://terminology.nmdp.org/codesystem/disease | SAA | SEVERE APLASTIC ANEMIA | ||
http://terminology.nmdp.org/codesystem/disease | SANFIA | SANFILIPPO A - MPS IIIA | ||
http://terminology.nmdp.org/codesystem/disease | SANFIB | SANFILIPPO B - MPS IIIB | ||
http://terminology.nmdp.org/codesystem/disease | SANFIC | SANFILIPPO C - MPS IIIC | ||
http://terminology.nmdp.org/codesystem/disease | SANFID | ANFILIPPO D - MPS IIID | ||
http://terminology.nmdp.org/codesystem/disease | SANFIL | SANFILLIPPO (MPS-III) | ||
http://terminology.nmdp.org/codesystem/disease | SCA | SICKLE CELL ANEMIA | ||
http://terminology.nmdp.org/codesystem/disease | SCHEIE | SCHEIE SYNDROME (MPS-IS) | ||
http://terminology.nmdp.org/codesystem/disease | SCID | SEVERE COMBINED IMMUNODEF |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |