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717968005: Melanoma and neural system tumor syndrome (disorder)

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3310727012 Melanoma and neural system tumour syndrome en Synonym Active Case insensitive SNOMED CT core
3310737019 Melanoma and neural system tumor syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3310738012 Melanoma and neural system tumor syndrome en Synonym Active Case insensitive SNOMED CT core
3310739016 An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. en Definition Active Case sensitive SNOMED CT core
3310740019 An extremely rare tumour association characterised by dual predisposition to melanoma and neural system tumours (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumour, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumours, and in other cases, melanoma was a secondary cancer. The aetiology of this tumour association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Melanoma and neural system tumour syndrome Finding site Skin structure true Inferred relationship Some 1
Melanoma and neural system tumour syndrome Associated morphology Malignant melanoma true Inferred relationship Some 1
Melanoma and neural system tumour syndrome Associated morphology Malignant neoplasm true Inferred relationship Some 2
Melanoma and neural system tumour syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Melanoma and neural system tumour syndrome Is a Malignant melanoma of skin true Inferred relationship Some
Melanoma and neural system tumour syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Melanoma and neural system tumour syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Melanoma and neural system tumour syndrome Is a Malignant neoplasm of nervous system true Inferred relationship Some
Melanoma and neural system tumour syndrome Is a Hereditary neoplastic syndrome true Inferred relationship Some
Melanoma and neural system tumour syndrome Associated morphology Malignant Neoplasm (Morphology) false Inferred relationship Some 2
Melanoma and neural system tumour syndrome Finding site Structure of nervous system true Inferred relationship Some 2
Melanoma and neural system tumour syndrome Associated morphology Malignant melanoma - category false Inferred relationship Some 3
Melanoma and neural system tumour syndrome Finding site Skin structure false Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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