717968005: Melanoma and neural system tumor syndrome (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3310727012 Melanoma and neural system tumour syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3310737019 Melanoma and neural system tumor syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3310738012 Melanoma and neural system tumor syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

908391000172110 syndrome mélanome-astrocytome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

942861000172116 syndrome mélanome-tumeur du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

874131000172117 melanoom, astrocytoomsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

948821000172114 melanoom en tumor van zenuwstelsel-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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 (disorder)	true	Inferred relationship	Some
Melanoma and neural system tumour syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Melanoma and neural system tumour syndrome	Associated morphology	maligne neoplasma	false	Inferred relationship	Some	2
Melanoma and neural system tumour syndrome	Finding site	Structure of nervous system (body structure)	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
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 (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3310727012	Melanoma and neural system tumour syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310737019	Melanoma and neural system tumor syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310738012	Melanoma and neural system tumor syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
908391000172110	syndrome mélanome-astrocytome	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
942861000172116	syndrome mélanome-tumeur du système nerveux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
874131000172117	melanoom, astrocytoomsyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
948821000172114	melanoom en tumor van zenuwstelsel-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)