723976005: Fibromatosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Fibromatosis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3427962012 Fibromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3427963019 Fibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibromatosis (disorder)	Associated morphology	Fibromatosis	true	Inferred relationship	Some	1
Fibromatosis (disorder)	Is a	Disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gingival fibromatosis	Is a	True	Fibromatosis (disorder)	Inferred relationship	Some
Musculoskeletal fibromatosis (disorder)	Is a	True	Fibromatosis (disorder)	Inferred relationship	Some
History of fibromatosis (situation)	Associated finding	True	Fibromatosis (disorder)	Inferred relationship	Some	1
Pachydermodactyly	Is a	True	Fibromatosis (disorder)	Inferred relationship	Some
A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.	Is a	True	Fibromatosis (disorder)	Inferred relationship	Some
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait.	Is a	False	Fibromatosis (disorder)	Inferred relationship	Some
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive.	Is a	True	Fibromatosis (disorder)	Inferred relationship	Some
Myofibromatosis	Is a	True	Fibromatosis (disorder)	Inferred relationship	Some

This concept is not in any reference sets