1197494003: Hyaline fibromatosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Joint deformity\Hyaline fibromatosis syndrome (disorder)

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)

\Mass of body structure\Mass of musculoskeletal structure (finding)\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)

\Musculoskeletal finding (finding)\Mass of musculoskeletal structure (finding)\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Joint finding\Joint deformity\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Hyaline fibromatosis syndrome (disorder)
\Disease\Genetic disease\Hyaline fibromatosis syndrome (disorder)
\Disease\Fibromatosis\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome (disorder)
\Disease\Systemic disease\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Hyaline fibromatosis syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4696579011 Hyaline fibromatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696580014 Hyaline fibromatosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696582018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696583011 A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized 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 diarrhea, increased susceptibility to infections, and severe failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696579011 Hyaline fibromatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696580014 Hyaline fibromatosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696582018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696583011 A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized 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 diarrhea, increased susceptibility to infections, and severe failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3387951001000119 Hyaline Fibromatose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3387951001000119 Hyaline Fibromatose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyaline fibromatosis syndrome (disorder)	Is a	Fibrous dysplasia of bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	Osteolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyaline fibromatosis syndrome (disorder)	Associated morphology	Osteolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyaline fibromatosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hyaline fibromatosis syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hyaline fibromatosis syndrome (disorder)	Associated morphology	Fibrous dysplasia (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hyaline fibromatosis syndrome (disorder)	Associated morphology	Hyaline degeneration (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hyaline fibromatosis syndrome (disorder)	Is a	Systemic disease affecting skin	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	Joint deformity	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	Lesion of joint	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	Arthropathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	Fibromatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	Skin lesion	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hyaline fibromatosis syndrome (disorder)	Associated morphology	Fibromatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hyaline fibromatosis syndrome (disorder)	Finding site	Joint structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hyaline fibromatosis syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Juvenile hyaline fibromatosis (disorder)	Is a	True	Hyaline fibromatosis syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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	True	Hyaline fibromatosis syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4696579011	Hyaline fibromatosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696580014	Hyaline fibromatosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696582018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696583011	A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized 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 diarrhea, increased susceptibility to infections, and severe failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696579011	Hyaline fibromatosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696580014	Hyaline fibromatosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696582018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696583011	A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized 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 diarrhea, increased susceptibility to infections, and severe failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3387951001000119	Hyaline Fibromatose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387951001000119	Hyaline Fibromatose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module