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Enum: PediatricOncologyDiagnosisCategory

High-level groupings for pediatric cancer diagnoses per CCDI CDE 16607972. Designed for cohort aggregation across federated data resources. Each diagnosis maps to a single dominant category.

URI: valuesets:PediatricOncologyDiagnosisCategory

Permissible Values

Value Meaning Description
ATYPICAL_TERATOID_RHABDOID_TUMOR NCIT:C6807 Highly malignant embryonal CNS tumor characterized by loss of SMARCB1 (INI1) ...
CHOROID_PLEXUS_TUMOR NCIT:C3698 Neoplasms arising from the choroid plexus epithelium, including papilloma, at...
CNS_GERM_CELL_TUMOR NCIT:C6286 Germ cell tumors arising within the central nervous system, including germino...
CNS_SARCOMA NCIT:C121624 Sarcomas arising primarily in the central nervous system, including Ewing sar...
CRANIOPHARYNGIOMA NCIT:C2998 Benign epithelial tumors arising from remnants of Rathke pouch, including ada...
EPENDYMOMA NCIT:C3017 Glial tumors arising from ependymal cells lining the ventricular system and c...
GLIONEURONAL_AND_NEURONAL_TUMOR NCIT:C6927 Tumors with neuronal differentiation including ganglioglioma, dysembryoplasti...
HIGH_GRADE_GLIOMA NCIT:C129355 Aggressive glial tumors including pediatric-type diffuse high-grade gliomas (...
LOW_GRADE_GLIOMA NCIT:C129354 Indolent glial tumors including pilocytic astrocytoma and pediatric-type diff...
MEDULLOBLASTOMA NCIT:C3222 Embryonal tumor of the cerebellum, classified by molecular subgroups (WNT-act...
OTHER_CNS_EMBRYONAL_TUMOR NCIT:C6774 Embryonal tumors of the CNS other than medulloblastoma and ATRT, including em...
OTHER_GLIOMA NCIT:C3059 Glial tumors not classified as high-grade or low-grade glioma, including angi...
OTHER_BRAIN_TUMOR NCIT:C2907 CNS tumors not fitting other brain tumor categories, including meningioma, sc...
LYMPHOBLASTIC_LEUKEMIA NCIT:C3167 Acute lymphoblastic leukemia (ALL) including B-ALL and T-ALL with all molecul...
MYELOID_LEUKEMIA NCIT:C3171 Acute myeloid leukemia (AML) and related myeloid neoplasms including AML with...
HODGKIN_LYMPHOMA NCIT:C9357 Lymphoid neoplasm characterized by Reed-Sternberg cells, including classical ...
NON_HODGKIN_LYMPHOMA NCIT:C3211 Lymphoid neoplasms other than Hodgkin lymphoma, including Burkitt lymphoma, d...
LYMPHOPROLIFERATIVE_DISEASE NCIT:C3138 Disorders characterized by abnormal lymphocyte proliferation, including post-...
OTHER_HEME_TUMOR NCIT:C27134 Hematologic malignancies not classified elsewhere, including histiocytic diso...
NEUROBLASTOMA NCIT:C3270 Embryonal tumor of the peripheral sympathetic nervous system, arising from ne...
OSTEOSARCOMA NCIT:C9145 Primary malignant bone tumor characterized by osteoid production, including c...
EWING_SARCOMA NCIT:C4817 Small round cell sarcoma typically harboring EWSR1 rearrangements, arising in...
RHABDOMYOSARCOMA NCIT:C3359 Malignant soft tissue tumor with skeletal muscle differentiation, including e...
SOFT_TISSUE_TUMOR NCIT:C3399 Soft tissue neoplasms other than rhabdomyosarcoma and Ewing sarcoma, includin...
RHABDOID_TUMOR NCIT:C3769 Highly aggressive tumors characterized by SMARCB1 loss, occurring outside the...
RENAL_TUMOR NCIT:C7548 Kidney tumors including Wilms tumor (nephroblastoma), clear cell sarcoma of k...
RETINOBLASTOMA NCIT:C7541 Malignant neoplasm of the retina arising from developing retinal cells, assoc...
GERM_CELL_TUMOR NCIT:C3708 Tumors arising from primordial germ cells, occurring in gonadal or extragonad...
ENDOCRINE_AND_NEUROENDOCRINE_TUMOR NCIT:C3010 Tumors of endocrine glands and neuroendocrine cells, including thyroid carcin...
OTHER_SOLID_TUMOR NCIT:C9107 Solid tumors not classified elsewhere, including hepatoblastoma, pleuropulmon...

See Also

Identifier and Mapping Information

Annotations

property value
caDSR_CDE 16607972
source CCDI Federation API
alignment WHO CNS5, WHO-HAEM5, WHO Pediatric Blue Book

Schema Source

  • from schema: https://w3id.org/linkml/valuesets

LinkML Source

name: PediatricOncologyDiagnosisCategory
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
  caDSR_CDE:
    tag: caDSR_CDE
    value: '16607972'
  source:
    tag: source
    value: CCDI Federation API
  alignment:
    tag: alignment
    value: WHO CNS5, WHO-HAEM5, WHO Pediatric Blue Book
description: High-level groupings for pediatric cancer diagnoses per CCDI CDE 16607972.
  Designed for cohort aggregation across federated data resources. Each diagnosis
  maps to a single dominant category.
title: Pediatric Oncology Diagnosis Category
from_schema: https://w3id.org/linkml/valuesets
see_also:
- https://github.com/CBIIT/ccdi-federation-api/discussions/160
- https://docs.stjude.cloud/cc4k
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
status: RELEASED
rank: 1000
permissible_values:
  ATYPICAL_TERATOID_RHABDOID_TUMOR:
    text: ATYPICAL_TERATOID_RHABDOID_TUMOR
    description: Highly malignant embryonal CNS tumor characterized by loss of SMARCB1
      (INI1) or SMARCA4 expression. Predominantly occurs in young children.
    meaning: NCIT:C6807
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: Atypical Teratoid/Rhabdoid Tumors
  CHOROID_PLEXUS_TUMOR:
    text: CHOROID_PLEXUS_TUMOR
    description: Neoplasms arising from the choroid plexus epithelium, including papilloma,
      atypical papilloma, and carcinoma.
    meaning: NCIT:C3698
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: Choroid Plexus Tumors
  CNS_GERM_CELL_TUMOR:
    text: CNS_GERM_CELL_TUMOR
    description: Germ cell tumors arising within the central nervous system, including
      germinoma and non-germinomatous germ cell tumors.
    meaning: NCIT:C6286
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: CNS Germ Cell Tumors
  CNS_SARCOMA:
    text: CNS_SARCOMA
    description: Sarcomas arising primarily in the central nervous system, including
      Ewing sarcoma and rhabdomyosarcoma of CNS.
    meaning: NCIT:C121624
    annotations:
      category:
        tag: category
        value: brain_tumor
    title: CNS Sarcomas
  CRANIOPHARYNGIOMA:
    text: CRANIOPHARYNGIOMA
    description: Benign epithelial tumors arising from remnants of Rathke pouch, including
      adamantinomatous and papillary subtypes.
    meaning: NCIT:C2998
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: Craniopharyngiomas
  EPENDYMOMA:
    text: EPENDYMOMA
    description: Glial tumors arising from ependymal cells lining the ventricular
      system and central canal. Includes molecular subtypes defined by WHO CNS5.
    meaning: NCIT:C3017
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: Ependymoma
  GLIONEURONAL_AND_NEURONAL_TUMOR:
    text: GLIONEURONAL_AND_NEURONAL_TUMOR
    description: Tumors with neuronal differentiation including ganglioglioma, dysembryoplastic
      neuroepithelial tumor (DNET), and central neurocytoma.
    meaning: NCIT:C6927
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: Glioneuronal and Neuronal Tumors
  HIGH_GRADE_GLIOMA:
    text: HIGH_GRADE_GLIOMA
    description: Aggressive glial tumors including pediatric-type diffuse high-grade
      gliomas (H3 K27-altered, H3 G34-mutant, and H3/IDH-wildtype), as well as glioblastoma.
    meaning: NCIT:C129355
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
      grade:
        tag: grade
        value: high
    title: High-Grade Gliomas
  LOW_GRADE_GLIOMA:
    text: LOW_GRADE_GLIOMA
    description: Indolent glial tumors including pilocytic astrocytoma and pediatric-type
      diffuse low-grade gliomas (MYB/MYBL1-altered, MAPK pathway-altered).
    meaning: NCIT:C129354
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
      grade:
        tag: grade
        value: low
    title: Low-Grade Gliomas
  MEDULLOBLASTOMA:
    text: MEDULLOBLASTOMA
    description: Embryonal tumor of the cerebellum, classified by molecular subgroups
      (WNT-activated, SHH-activated, Group 3, Group 4) per WHO CNS5.
    meaning: NCIT:C3222
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: Medulloblastoma
  OTHER_CNS_EMBRYONAL_TUMOR:
    text: OTHER_CNS_EMBRYONAL_TUMOR
    description: Embryonal tumors of the CNS other than medulloblastoma and ATRT,
      including embryonal tumor with multilayered rosettes (ETMR), CNS neuroblastoma,
      and pineoblastoma.
    meaning: NCIT:C6774
    annotations:
      category:
        tag: category
        value: brain_tumor
      who_classification:
        tag: who_classification
        value: WHO CNS5
    title: Other CNS Embryonal Tumors
    aliases:
    - CNS Embryonal Tumor, NOS
  OTHER_GLIOMA:
    text: OTHER_GLIOMA
    description: Glial tumors not classified as high-grade or low-grade glioma, including
      angiocentric glioma and astroblastoma.
    meaning: NCIT:C3059
    annotations:
      category:
        tag: category
        value: brain_tumor
    title: Other Gliomas
  OTHER_BRAIN_TUMOR:
    text: OTHER_BRAIN_TUMOR
    description: CNS tumors not fitting other brain tumor categories, including meningioma,
      schwannoma, and hemangioblastoma.
    meaning: NCIT:C2907
    annotations:
      category:
        tag: category
        value: brain_tumor
    title: Other Brain Tumors
  LYMPHOBLASTIC_LEUKEMIA:
    text: LYMPHOBLASTIC_LEUKEMIA
    description: Acute lymphoblastic leukemia (ALL) including B-ALL and T-ALL with
      all molecular subtypes (BCR::ABL1, ETV6::RUNX1, KMT2A-r, DUX4, MEF2D, etc.).
    meaning: NCIT:C3167
    annotations:
      category:
        tag: category
        value: hematologic
      who_classification:
        tag: who_classification
        value: WHO-HAEM5
    title: Lymphoblastic Leukemia
    aliases:
    - ALL
    - Acute Lymphoblastic Leukemia
  MYELOID_LEUKEMIA:
    text: MYELOID_LEUKEMIA
    description: Acute myeloid leukemia (AML) and related myeloid neoplasms including
      AML with defining genetic abnormalities, therapy-related AML, and juvenile myelomonocytic
      leukemia (JMML).
    meaning: NCIT:C3171
    annotations:
      category:
        tag: category
        value: hematologic
      who_classification:
        tag: who_classification
        value: WHO-HAEM5
    title: Myeloid Leukemia
    aliases:
    - AML
    - Acute Myeloid Leukemia
  HODGKIN_LYMPHOMA:
    text: HODGKIN_LYMPHOMA
    description: Lymphoid neoplasm characterized by Reed-Sternberg cells, including
      classical Hodgkin lymphoma and nodular lymphocyte predominant Hodgkin lymphoma.
    meaning: NCIT:C9357
    annotations:
      category:
        tag: category
        value: hematologic
      who_classification:
        tag: who_classification
        value: WHO-HAEM5
    title: Hodgkin Lymphoma
  NON_HODGKIN_LYMPHOMA:
    text: NON_HODGKIN_LYMPHOMA
    description: Lymphoid neoplasms other than Hodgkin lymphoma, including Burkitt
      lymphoma, diffuse large B-cell lymphoma, anaplastic large cell lymphoma, and
      lymphoblastic lymphoma.
    meaning: NCIT:C3211
    annotations:
      category:
        tag: category
        value: hematologic
      who_classification:
        tag: who_classification
        value: WHO-HAEM5
    title: Non-Hodgkin Lymphoma
    aliases:
    - NHL
  LYMPHOPROLIFERATIVE_DISEASE:
    text: LYMPHOPROLIFERATIVE_DISEASE
    description: Disorders characterized by abnormal lymphocyte proliferation, including
      post-transplant lymphoproliferative disorder (PTLD) and hemophagocytic lymphohistiocytosis
      (HLH).
    meaning: NCIT:C3138
    annotations:
      category:
        tag: category
        value: hematologic
    title: Lymphoproliferative Diseases
  OTHER_HEME_TUMOR:
    text: OTHER_HEME_TUMOR
    description: Hematologic malignancies not classified elsewhere, including histiocytic
      disorders, myelodysplastic syndromes, and myeloproliferative neoplasms.
    meaning: NCIT:C27134
    annotations:
      category:
        tag: category
        value: hematologic
    title: Other Heme Tumors
  NEUROBLASTOMA:
    text: NEUROBLASTOMA
    description: Embryonal tumor of the peripheral sympathetic nervous system, arising
      from neural crest cells. Includes ganglioneuroblastoma and ganglioneuroma.
    meaning: NCIT:C3270
    annotations:
      category:
        tag: category
        value: solid_tumor
      who_classification:
        tag: who_classification
        value: WHO Pediatric Blue Book
    title: Neuroblastoma
  OSTEOSARCOMA:
    text: OSTEOSARCOMA
    description: Primary malignant bone tumor characterized by osteoid production,
      including conventional, telangiectatic, and small cell variants.
    meaning: NCIT:C9145
    annotations:
      category:
        tag: category
        value: solid_tumor
      who_classification:
        tag: who_classification
        value: WHO Bone/Soft Tissue
    title: Osteosarcoma
  EWING_SARCOMA:
    text: EWING_SARCOMA
    description: Small round cell sarcoma typically harboring EWSR1 rearrangements,
      arising in bone or soft tissue. Includes Ewing sarcoma family of tumors.
    meaning: NCIT:C4817
    annotations:
      category:
        tag: category
        value: solid_tumor
      who_classification:
        tag: who_classification
        value: WHO Bone/Soft Tissue
    title: Ewing Sarcoma
  RHABDOMYOSARCOMA:
    text: RHABDOMYOSARCOMA
    description: Malignant soft tissue tumor with skeletal muscle differentiation,
      including embryonal, alveolar, and spindle cell/sclerosing subtypes.
    meaning: NCIT:C3359
    annotations:
      category:
        tag: category
        value: solid_tumor
      who_classification:
        tag: who_classification
        value: WHO Bone/Soft Tissue
    title: Rhabdomyosarcoma
  SOFT_TISSUE_TUMOR:
    text: SOFT_TISSUE_TUMOR
    description: Soft tissue neoplasms other than rhabdomyosarcoma and Ewing sarcoma,
      including synovial sarcoma, fibrosarcoma, and other sarcomas. Also includes
      non-sarcomatous soft tissue tumors.
    meaning: NCIT:C3399
    annotations:
      category:
        tag: category
        value: solid_tumor
    title: Soft Tissue Tumors
    aliases:
    - Soft Tissue Sarcoma
  RHABDOID_TUMOR:
    text: RHABDOID_TUMOR
    description: Highly aggressive tumors characterized by SMARCB1 loss, occurring
      outside the CNS (extracranial rhabdoid tumor). Includes malignant rhabdoid tumor
      of kidney.
    meaning: NCIT:C3769
    annotations:
      category:
        tag: category
        value: solid_tumor
    title: Rhabdoid Tumors
  RENAL_TUMOR:
    text: RENAL_TUMOR
    description: Kidney tumors including Wilms tumor (nephroblastoma), clear cell
      sarcoma of kidney, renal cell carcinoma, and congenital mesoblastic nephroma.
    meaning: NCIT:C7548
    annotations:
      category:
        tag: category
        value: solid_tumor
      who_classification:
        tag: who_classification
        value: WHO Pediatric Blue Book
    title: Renal Tumors
    aliases:
    - Kidney Tumor
    - Wilms Tumor
  RETINOBLASTOMA:
    text: RETINOBLASTOMA
    description: Malignant neoplasm of the retina arising from developing retinal
      cells, associated with RB1 mutations.
    meaning: NCIT:C7541
    annotations:
      category:
        tag: category
        value: solid_tumor
      who_classification:
        tag: who_classification
        value: WHO Pediatric Blue Book
    title: Retinoblastoma
  GERM_CELL_TUMOR:
    text: GERM_CELL_TUMOR
    description: Tumors arising from primordial germ cells, occurring in gonadal or
      extragonadal sites. Includes teratoma, yolk sac tumor, germinoma, choriocarcinoma,
      and mixed germ cell tumors. Excludes CNS germ cell tumors.
    meaning: NCIT:C3708
    annotations:
      category:
        tag: category
        value: solid_tumor
    title: Germ Cell Tumors
  ENDOCRINE_AND_NEUROENDOCRINE_TUMOR:
    text: ENDOCRINE_AND_NEUROENDOCRINE_TUMOR
    description: Tumors of endocrine glands and neuroendocrine cells, including thyroid
      carcinoma, adrenocortical carcinoma, pheochromocytoma, and paraganglioma.
    meaning: NCIT:C3010
    annotations:
      category:
        tag: category
        value: solid_tumor
    title: Endocrine and Neuroendocrine Tumors
  OTHER_SOLID_TUMOR:
    text: OTHER_SOLID_TUMOR
    description: Solid tumors not classified elsewhere, including hepatoblastoma,
      pleuropulmonary blastoma, nasopharyngeal carcinoma, melanoma, and carcinomas.
    meaning: NCIT:C9107
    annotations:
      category:
        tag: category
        value: solid_tumor
    title: Other Solid Tumors