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Table 1 NCI Thesaurus sample concept with new subtype concept

From: The CAP cancer protocols – a case study of caCORE based data standards implementation to integrate with the Cancer Biomedical Informatics Grid

A. Acral lentiginous melanoma (C4022)(existing concept defined with both text and description logic role relationships)

Parent: Cutaneous melanoma

Definition: A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.

<Other synonyms, codes, etc.>

Description logic role relationships Inherits some values from more general concepts, adds five new ones.

Anatomy roles:

Disease_Has_Primary_Anatomic_Site

Skin of the extremity

Disease_Excludes_Primary_Anatomic_Site

Skin of the trunk

Disease_Has_Normal_Tissue_Origin

Skin tissue

Pathology & finding roles:

Disease_Has_Normal_Cell_Origin

Melanocyte

Disease_Has_Abnormal_Cell

Dendritic melanoma cell

Disease_Has_Abnormal_Cell

Spindle melanoma cell

Disease_Has_Finding

Cutaneous involvement

Disease_Has_Finding

Macular lesion

Molecular abnormality roles:

Disease_May_Have_Molecular_Abnormality

BRAF gene mutation

Disease_May_Have_Molecular_Abnormality

NF-2 tumor-suppressor gene inactivation

B. Mucosal lentiginous melanoma (C48622)(subtype concept added to support CAP protocol, with new text definition and role)

Parent: Acral lentiginous melanoma

Definition: An acral lentiginous melanoma affecting mucosal surfaces.

<Other synonyms, codes, etc.>

Description logic role relationships Inherits all values from parent concept above, add one to logically distinguish this concept.

Additional anatomy role:

Disease_Has_Normal_Tissue_Origin

Mucosa