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 | Title | Meaning | Description | Category | Grade | Who Classification |
|---|---|---|---|---|---|---|
| ATYPICAL_TERATOID_RHABDOID_TUMOR | Atypical Teratoid/Rhabdoid Tumor | NCIT:C6906 | Highly malignant embryonal CNS tumor characterized by loss of SMARCB1 (INI1) or SMARCA4 expression. Predominantly occurs in young children. | brain_tumor | WHO CNS5 | |
| CHOROID_PLEXUS_TUMOR | Choroid Plexus Neoplasm | NCIT:C3473 | Neoplasms arising from the choroid plexus epithelium, including papilloma, atypical papilloma, and carcinoma. | brain_tumor | WHO CNS5 | |
| CNS_GERM_CELL_TUMOR | Central Nervous System Germ Cell Tumor | NCIT:C5461 | Germ cell tumors arising within the central nervous system, including germinoma and non-germinomatous germ cell tumors. | brain_tumor | WHO CNS5 | |
| CNS_SARCOMA | Central Nervous System Sarcoma | NCIT:C5153 | Sarcomas arising primarily in the central nervous system, including Ewing sarcoma and rhabdomyosarcoma of CNS. | brain_tumor | ||
| CRANIOPHARYNGIOMA | Craniopharyngioma | NCIT:C2964 | Benign epithelial tumors arising from remnants of Rathke pouch, including adamantinomatous and papillary subtypes. | brain_tumor | WHO CNS5 | |
| EPENDYMOMA | Ependymoma | NCIT:C3017 | Glial tumors arising from ependymal cells lining the ventricular system and central canal. Includes molecular subtypes defined by WHO CNS5. | brain_tumor | WHO CNS5 | |
| GLIONEURONAL_AND_NEURONAL_TUMOR | Glioneuronal and Neuronal Tumors | NCIT:C4747 | Tumors with neuronal differentiation including ganglioglioma, dysembryoplastic neuroepithelial tumor (DNET), and central neurocytoma. | brain_tumor | WHO CNS5 | |
| HIGH_GRADE_GLIOMA | Malignant Glioma | NCIT:C4822 | Aggressive glial tumors including pediatric-type diffuse high-grade gliomas (H3 K27-altered, H3 G34-mutant, and H3/IDH-wildtype), as well as glioblastoma. | brain_tumor | high | WHO CNS5 |
| LOW_GRADE_GLIOMA | Low Grade Glioma | NCIT:C132067 | Indolent glial tumors including pilocytic astrocytoma and pediatric-type diffuse low-grade gliomas (MYB/MYBL1-altered, MAPK pathway-altered). | brain_tumor | low | WHO CNS5 |
| MEDULLOBLASTOMA | Medulloblastoma | NCIT:C3222 | Embryonal tumor of the cerebellum, classified by molecular subgroups (WNT-activated, SHH-activated, Group 3, Group 4) per WHO CNS5. | brain_tumor | WHO CNS5 | |
| OTHER_CNS_EMBRYONAL_TUMOR | Central Nervous System Embryonal Tumor | NCIT:C6990 | Embryonal tumors of the CNS other than medulloblastoma and ATRT, including embryonal tumor with multilayered rosettes (ETMR), CNS neuroblastoma, and pineoblastoma. | brain_tumor | WHO CNS5 | |
| OTHER_GLIOMA | Glioma | NCIT:C3059 | Glial tumors not classified as high-grade or low-grade glioma, including angiocentric glioma and astroblastoma. | brain_tumor | ||
| OTHER_BRAIN_TUMOR | Brain Neoplasm | NCIT:C2907 | CNS tumors not fitting other brain tumor categories, including meningioma, schwannoma, and hemangioblastoma. | brain_tumor | ||
| LYMPHOBLASTIC_LEUKEMIA | Lymphoblastic Leukemia | NCIT:C3167 | Acute lymphoblastic leukemia (ALL) including B-ALL and T-ALL with all molecular subtypes (BCR::ABL1, ETV6::RUNX1, KMT2A-r, DUX4, MEF2D, etc.). | hematologic | WHO-HAEM5 | |
| MYELOID_LEUKEMIA | Myeloid Leukemia | NCIT:C3171 | Acute myeloid leukemia (AML) and related myeloid neoplasms including AML with defining genetic abnormalities, therapy-related AML, and juvenile myelomonocytic leukemia (JMML). | hematologic | WHO-HAEM5 | |
| HODGKIN_LYMPHOMA | Hodgkin Lymphoma | NCIT:C9357 | Lymphoid neoplasm characterized by Reed-Sternberg cells, including classical Hodgkin lymphoma and nodular lymphocyte predominant Hodgkin lymphoma. | hematologic | WHO-HAEM5 | |
| NON_HODGKIN_LYMPHOMA | Non-Hodgkin Lymphoma | NCIT:C3211 | Lymphoid neoplasms other than Hodgkin lymphoma, including Burkitt lymphoma, diffuse large B-cell lymphoma, anaplastic large cell lymphoma, and lymphoblastic lymphoma. | hematologic | WHO-HAEM5 | |
| LYMPHOPROLIFERATIVE_DISEASE | Lymphoproliferative Disorder | NCIT:C9308 | Disorders characterized by abnormal lymphocyte proliferation, including post-transplant lymphoproliferative disorder (PTLD) and hemophagocytic lymphohistiocytosis (HLH). | hematologic | ||
| OTHER_HEME_TUMOR | Hematopoietic and Lymphoid Cell Neoplasm | NCIT:C27134 | Hematologic malignancies not classified elsewhere, including histiocytic disorders, myelodysplastic syndromes, and myeloproliferative neoplasms. | hematologic | ||
| NEUROBLASTOMA | Neuroblastoma | NCIT:C3270 | Embryonal tumor of the peripheral sympathetic nervous system, arising from neural crest cells. Includes ganglioneuroblastoma and ganglioneuroma. | solid_tumor | WHO Pediatric Blue Book | |
| OSTEOSARCOMA | Osteosarcoma | NCIT:C9145 | Primary malignant bone tumor characterized by osteoid production, including conventional, telangiectatic, and small cell variants. | solid_tumor | WHO Bone/Soft Tissue | |
| EWING_SARCOMA | Ewing Sarcoma | NCIT:C4817 | Small round cell sarcoma typically harboring EWSR1 rearrangements, arising in bone or soft tissue. Includes Ewing sarcoma family of tumors. | solid_tumor | WHO Bone/Soft Tissue | |
| RHABDOMYOSARCOMA | Rhabdomyosarcoma | NCIT:C3359 | Malignant soft tissue tumor with skeletal muscle differentiation, including embryonal, alveolar, and spindle cell/sclerosing subtypes. | solid_tumor | WHO Bone/Soft Tissue | |
| SOFT_TISSUE_TUMOR | Soft Tissue Sarcoma | NCIT:C9306 | Soft tissue neoplasms other than rhabdomyosarcoma and Ewing sarcoma, including synovial sarcoma, fibrosarcoma, and other sarcomas. Also includes non-sarcomatous soft tissue tumors. | solid_tumor | ||
| RHABDOID_TUMOR | Rhabdoid Tumor | NCIT:C3808 | Highly aggressive tumors characterized by SMARCB1 loss, occurring outside the CNS (extracranial rhabdoid tumor). Includes malignant rhabdoid tumor of kidney. | solid_tumor | ||
| RENAL_TUMOR | Malignant Kidney Neoplasm | NCIT:C7548 | Kidney tumors including Wilms tumor (nephroblastoma), clear cell sarcoma of kidney, renal cell carcinoma, and congenital mesoblastic nephroma. | solid_tumor | WHO Pediatric Blue Book | |
| RETINOBLASTOMA | Retinoblastoma | NCIT:C7541 | Malignant neoplasm of the retina arising from developing retinal cells, associated with RB1 mutations. | solid_tumor | WHO Pediatric Blue Book | |
| GERM_CELL_TUMOR | Germ Cell Tumors | NCIT:C3708 | 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. | solid_tumor | ||
| ENDOCRINE_AND_NEUROENDOCRINE_TUMOR | Endocrine Neoplasm | NCIT:C3010 | Tumors of endocrine glands and neuroendocrine cells, including thyroid carcinoma, adrenocortical carcinoma, pheochromocytoma, and paraganglioma. | solid_tumor | ||
| OTHER_SOLID_TUMOR | Childhood Solid Neoplasm | NCIT:C9107 | Solid tumors not classified elsewhere, including hepatoblastoma, pleuropulmonary blastoma, nasopharyngeal carcinoma, melanoma, and carcinomas. | solid_tumor |
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:C6906
annotations:
category:
tag: category
value: brain_tumor
who_classification:
tag: who_classification
value: WHO CNS5
title: Atypical Teratoid/Rhabdoid Tumor
CHOROID_PLEXUS_TUMOR:
text: CHOROID_PLEXUS_TUMOR
description: Neoplasms arising from the choroid plexus epithelium, including papilloma,
atypical papilloma, and carcinoma.
meaning: NCIT:C3473
annotations:
category:
tag: category
value: brain_tumor
who_classification:
tag: who_classification
value: WHO CNS5
title: Choroid Plexus Neoplasm
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:C5461
annotations:
category:
tag: category
value: brain_tumor
who_classification:
tag: who_classification
value: WHO CNS5
title: Central Nervous System Germ Cell Tumor
CNS_SARCOMA:
text: CNS_SARCOMA
description: Sarcomas arising primarily in the central nervous system, including
Ewing sarcoma and rhabdomyosarcoma of CNS.
meaning: NCIT:C5153
annotations:
category:
tag: category
value: brain_tumor
title: Central Nervous System Sarcoma
CRANIOPHARYNGIOMA:
text: CRANIOPHARYNGIOMA
description: Benign epithelial tumors arising from remnants of Rathke pouch, including
adamantinomatous and papillary subtypes.
meaning: NCIT:C2964
annotations:
category:
tag: category
value: brain_tumor
who_classification:
tag: who_classification
value: WHO CNS5
title: Craniopharyngioma
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:C4747
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:C4822
annotations:
category:
tag: category
value: brain_tumor
who_classification:
tag: who_classification
value: WHO CNS5
grade:
tag: grade
value: high
title: Malignant Glioma
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:C132067
annotations:
category:
tag: category
value: brain_tumor
who_classification:
tag: who_classification
value: WHO CNS5
grade:
tag: grade
value: low
title: Low Grade Glioma
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:C6990
annotations:
category:
tag: category
value: brain_tumor
who_classification:
tag: who_classification
value: WHO CNS5
title: Central Nervous System Embryonal Tumor
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: Glioma
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: Brain Neoplasm
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:C9308
annotations:
category:
tag: category
value: hematologic
title: Lymphoproliferative Disorder
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: Hematopoietic and Lymphoid Cell Neoplasm
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:C9306
annotations:
category:
tag: category
value: solid_tumor
title: Soft Tissue Sarcoma
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:C3808
annotations:
category:
tag: category
value: solid_tumor
title: Rhabdoid Tumor
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: Malignant Kidney Neoplasm
aliases:
- Kidney Tumor
- Wilms Tumor
- Renal Tumors
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 Neoplasm
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: Childhood Solid Neoplasm