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1222705009: Familial multiple discoid fibroma (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5400022015 A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400023013 A rare, genetic, skin tumour disorder characterised by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048592016 Familial multiple trichodiscoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048593014 Familial multiple discoid fibroma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048594015 Familial multiple discoid fibroma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7758751000241114 trichodiscomes multiples familiaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7758761000241112 fibromes discoïdes multiples familiaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416311001000114 Familiäre multiple hereditäre diskoide Fibrome de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Is a Trichodiscoma true Inferred relationship Some
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Is a Hereditary disorder of the integument true Inferred relationship Some
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Is a Dermatosis in childhood (disorder) true Inferred relationship Some
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Is a Familial neoplastic disease true Inferred relationship Some
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Occurrence Childhood true Inferred relationship Some 1
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Finding site Skin structure true Inferred relationship Some 1
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Associated morphology Follicular fibroma (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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