0.1.0 - ci-build
MatchSyncIG - Local Development build (v0.1.0). See the Directory of published versions
| Official URL: http://fhir.nmdp.org/ig/matchsync/ValueSet/nmdp-disease-codes | Version: 0.1.0 | |||
| Active as of 2023-05-09 | Computable Name: NMDPDiseaseVS | |||
NMDP disease codes
References
http://terminology.nmdp.org/codesystem/disease
This value set contains 100 concepts
Expansion based on NMDP Disease Code System v0.1.0 (CodeSystem)
| Code | System | Display |
| ABL | http://terminology.nmdp.org/codesystem/disease | ACUTE BILINEAGE LEUKEMIA |
| AISA | http://terminology.nmdp.org/codesystem/disease | ACQ IDIOPATH SIDERBLASTIC ANEM |
| ALD | http://terminology.nmdp.org/codesystem/disease | ADRENOLEUKODYSTROPHY |
| ALL | http://terminology.nmdp.org/codesystem/disease | ACUTE LYMPHOBLASTIC LEUKEMIA |
| AMCL | http://terminology.nmdp.org/codesystem/disease | ACUTE MAST CELL LEUKEMIA |
| AMEGCT | http://terminology.nmdp.org/codesystem/disease | AMEGAKARYOCY/CONGENTIAL THROM |
| AML | http://terminology.nmdp.org/codesystem/disease | ACUTE MYELOGENOUS LEUKEMIA |
| ASPGL | http://terminology.nmdp.org/codesystem/disease | ASPARTYL GLUCOSAMINIDASE |
| AT | http://terminology.nmdp.org/codesystem/disease | ATAXIA-TELANGIECTASIA |
| AUL | http://terminology.nmdp.org/codesystem/disease | ACUTE UNDIFFERENTIATED LEUK-MO |
| BGLUD | http://terminology.nmdp.org/codesystem/disease | BETA-GLUCURONIDASE DEFICIENCY |
| BLSYND | http://terminology.nmdp.org/codesystem/disease | BARE LYMPHOCYTE SYNDROME |
| BRCA | http://terminology.nmdp.org/codesystem/disease | BREAST CANCER |
| BTHAL | http://terminology.nmdp.org/codesystem/disease | BETA THALASSEMIA MAJOR |
| C-HHYP | http://terminology.nmdp.org/codesystem/disease | CARTILAGE-HAIR HYPOPLASIA |
| CGD | http://terminology.nmdp.org/codesystem/disease | CHRONIC GRANULOMATOUS DISEASE |
| CID | http://terminology.nmdp.org/codesystem/disease | COMBINED IMMUNODEFICIENCY |
| CLL | http://terminology.nmdp.org/codesystem/disease | CHRONIC LYMPHOCYTIC LEUKEMIA |
| CML | http://terminology.nmdp.org/codesystem/disease | CHRONIC MYELOGENOUS LEUKEMIA |
| CMML | http://terminology.nmdp.org/codesystem/disease | CHRONIC MYELOMONOCYTIC LEUK |
| CNSCA | http://terminology.nmdp.org/codesystem/disease | CENTRAL NERVOUS SYSTEM TUMORS |
| DIGRGE | http://terminology.nmdp.org/codesystem/disease | DI GEORGE SYNDROME |
| ETC | http://terminology.nmdp.org/codesystem/disease | ESSENTIAL THROMOBOCYTHEMIA |
| EWINGS | http://terminology.nmdp.org/codesystem/disease | EWINGS SARCOMA |
| FA | http://terminology.nmdp.org/codesystem/disease | FANCONI ANEMIA |
| FEL | http://terminology.nmdp.org/codesystem/disease | FAMILIAL ERYTHROPHAGOCYTIC |
| FUCOSI | http://terminology.nmdp.org/codesystem/disease | FUCOSIDOSIS |
| GAUCHR | http://terminology.nmdp.org/codesystem/disease | GAUCHER'S DISEASE |
| GLTROM | http://terminology.nmdp.org/codesystem/disease | GLANZMANNS THROMBASTHENIA |
| GLUCST | http://terminology.nmdp.org/codesystem/disease | GLUCOSE STORAGE DISEASE |
| HCL | http://terminology.nmdp.org/codesystem/disease | HAIRY CELL LEUKEMIA |
| HISX | http://terminology.nmdp.org/codesystem/disease | HISTIOCYTOSIS-X |
| HIV | http://terminology.nmdp.org/codesystem/disease | HIV INFECTION |
| HL | http://terminology.nmdp.org/codesystem/disease | HODGKINS LYMPHOMA |
| HPGC | http://terminology.nmdp.org/codesystem/disease | HEMOPHAGOCYTOSIS |
| HUNTER | http://terminology.nmdp.org/codesystem/disease | HUNTER SYNDROME (MPS-II) |
| HURLER | http://terminology.nmdp.org/codesystem/disease | HURLER SYNDROME (MPS-IH) |
| ICELL | http://terminology.nmdp.org/codesystem/disease | I-CELL DISEASE |
| IMDNP | http://terminology.nmdp.org/codesystem/disease | IMMUNE DEFICIENCY + NEUTROPEN |
| JCML | http://terminology.nmdp.org/codesystem/disease | JUVENILE CHRONIC MYELOGENOUS |
| KOSTMN | http://terminology.nmdp.org/codesystem/disease | KOSTMANN'S AGRANULOCYTOSIS |
| KRABBE | http://terminology.nmdp.org/codesystem/disease | KRABBE DISEASE |
| LAD | http://terminology.nmdp.org/codesystem/disease | LEUKOCYTE ADHESION DEFICIENCY |
| LN | http://terminology.nmdp.org/codesystem/disease | LESCH-NYHAN |
| LNS | http://terminology.nmdp.org/codesystem/disease | LESCH-NYHAN |
| LYSOST | http://terminology.nmdp.org/codesystem/disease | LYSOSOMAL STORAGE DISEASE |
| MANNO | http://terminology.nmdp.org/codesystem/disease | MANNOSIDOSIS |
| MARLAM | http://terminology.nmdp.org/codesystem/disease | MAROTEAUX-LAMY (MPS-VI) |
| MDS | http://terminology.nmdp.org/codesystem/disease | MYELODYSPLASTIC DISORDER |
| MFMM | http://terminology.nmdp.org/codesystem/disease | MYELOFIBRO MYELOID METAPLASIA |
| MLD | http://terminology.nmdp.org/codesystem/disease | METACHROMATIC LEUKODYSTROPHY |
| MM | http://terminology.nmdp.org/codesystem/disease | MULTIPLE MYELOMA |
| MORQUA | http://terminology.nmdp.org/codesystem/disease | MORQUIO A - MPS IVA |
| MORQUB | http://terminology.nmdp.org/codesystem/disease | MORQUIO B - MPS IVB |
| MORQUO | http://terminology.nmdp.org/codesystem/disease | MORQUIO (MPS-IV) |
| MPS | http://terminology.nmdp.org/codesystem/disease | MUCOPOLYSACCHARIDOSIS (MPS-V) |
| N-P | http://terminology.nmdp.org/codesystem/disease | NEIMAN-PICK DISEASE |
| NB | http://terminology.nmdp.org/codesystem/disease | NEUROBLASTOMA |
| NCL1 | http://terminology.nmdp.org/codesystem/disease | ENZYME NCL 1 |
| NCL2 | http://terminology.nmdp.org/codesystem/disease | ENZYME NCL 2 |
| NEUTAD | http://terminology.nmdp.org/codesystem/disease | NEUTROPHIL ACTIN DEFICIENCY |
| NEUTD | http://terminology.nmdp.org/codesystem/disease | CHEDIAK-HIGASHI SYNDROME |
| NHL | http://terminology.nmdp.org/codesystem/disease | NON-HODGKINS LYMPHOMA |
| OCID | http://terminology.nmdp.org/codesystem/disease | OTHR COMBINED IMMUNODEFICIENCY |
| OHIS | http://terminology.nmdp.org/codesystem/disease | OTHER HISTIOCYTIC DISORDERS |
| OIEA | http://terminology.nmdp.org/codesystem/disease | OTH ERYTHROCYT DIFFERENTIATION |
| OIIS | http://terminology.nmdp.org/codesystem/disease | OTHER IMMUNE SYSTEM |
| OIMD | http://terminology.nmdp.org/codesystem/disease | OTH INHER METABOLISM DISORD |
| OIMDL | http://terminology.nmdp.org/codesystem/disease | OTH MUCOLIPIDOSES |
| OIMDP | http://terminology.nmdp.org/codesystem/disease | OTH MUCOPOLYSACCHARIDOSIS |
| OIPA | http://terminology.nmdp.org/codesystem/disease | OTH ABNORMALITIES OR PLATELETS |
| OMDS | http://terminology.nmdp.org/codesystem/disease | OTHER MYELODYSPLASTIC DISORDER |
| OMF | http://terminology.nmdp.org/codesystem/disease | OTHER MYLEOFIBROSIS/MYLEOSCLER |
| OMMEN | http://terminology.nmdp.org/codesystem/disease | OMMEN'S SYNDROME |
| OMS | http://terminology.nmdp.org/codesystem/disease | OTH MALIGNANCY, SPECIFY |
| OND | http://terminology.nmdp.org/codesystem/disease | OTHER NON-MALIGNANT DISEASE |
| OOL | http://terminology.nmdp.org/codesystem/disease | OTHER LEUKEMIA SPECIFY |
| OPCD | http://terminology.nmdp.org/codesystem/disease | OTHER PLASMA CELL DISORDER |
| OSCID | http://terminology.nmdp.org/codesystem/disease | OTHER SCID |
| OST | http://terminology.nmdp.org/codesystem/disease | OSTEOPETROSIS |
| OTHHGP | http://terminology.nmdp.org/codesystem/disease | OTHER HEMOGLOBINOPATHY |
| PCL | http://terminology.nmdp.org/codesystem/disease | PLASMA CELL LEUKEMIA |
| PHILLY | http://terminology.nmdp.org/codesystem/disease | PROLYMPHOCYTIC LEUKEMIA |
| PNH | http://terminology.nmdp.org/codesystem/disease | PAROXYSMAL NOCTURNAL HEMOGLOB |
| PV | http://terminology.nmdp.org/codesystem/disease | POLYCYTHEMIA VERA |
| RA | http://terminology.nmdp.org/codesystem/disease | REFRACTORY ANEMIA (RA) |
| RAEB | http://terminology.nmdp.org/codesystem/disease | REFRACT ANEMIA-EXCESS BLASTS |
| RAEBIT | http://terminology.nmdp.org/codesystem/disease | REFRACT ANEMIA-EX. BLAST TRAN |
| RCA | http://terminology.nmdp.org/codesystem/disease | PURE RED CELL APLASIA |
| RCC | http://terminology.nmdp.org/codesystem/disease | RENAL CELL CARCINOMA |
| RETDG | http://terminology.nmdp.org/codesystem/disease | RETICULAR DYSGENESIS |
| SAA | http://terminology.nmdp.org/codesystem/disease | SEVERE APLASTIC ANEMIA |
| SANFIA | http://terminology.nmdp.org/codesystem/disease | SANFILIPPO A - MPS IIIA |
| SANFIB | http://terminology.nmdp.org/codesystem/disease | SANFILIPPO B - MPS IIIB |
| SANFIC | http://terminology.nmdp.org/codesystem/disease | SANFILIPPO C - MPS IIIC |
| SANFID | http://terminology.nmdp.org/codesystem/disease | ANFILIPPO D - MPS IIID |
| SANFIL | http://terminology.nmdp.org/codesystem/disease | SANFILLIPPO (MPS-III) |
| SCA | http://terminology.nmdp.org/codesystem/disease | SICKLE CELL ANEMIA |
| SCHEIE | http://terminology.nmdp.org/codesystem/disease | SCHEIE SYNDROME (MPS-IS) |
| SCID | http://terminology.nmdp.org/codesystem/disease | 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 |