238861002: Juvenile hyaline fibromatosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Joint deformity\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis

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

\Mass of body structure\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis

\General finding of soft tissue\Skin finding\Disorder of skin\Systemic disease affecting skin\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Juvenile hyaline fibromatosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Integumentary system finding\Skin finding\Disorder of skin\Systemic disease affecting skin\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis

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

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Genetic disease\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Juvenile hyaline fibromatosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Juvenile hyaline fibromatosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Juvenile hyaline fibromatosis
\Disease\Fibromatosis\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Congenital disease\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Systemic disease\Systemic disease affecting skin\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hyaline fibromatosis syndrome\Juvenile hyaline fibromatosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

357982019 Juvenile hyaline fibromatosis en Synonym Active Case insensitive SNOMED CT core

357983012 Puretic syndrome en Synonym Active Case insensitive SNOMED CT core

357984018 Systemic hyalinosis en Synonym Active Case insensitive SNOMED CT core

4696609018 Murray Puretic Drescher syndrome en Synonym Active Case sensitive SNOMED CT core

627799017 Juvenile hyaline fibromatosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4696770013 A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile hyaline fibromatosis	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Juvenile hyaline fibromatosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Juvenile hyaline fibromatosis	Associated morphology	Fibrous dysplasia	true	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Juvenile hyaline fibromatosis	Is a	Hyaline fibromatosis syndrome	true	Inferred relationship	Some
Juvenile hyaline fibromatosis	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Juvenile hyaline fibromatosis	Associated morphology	Hyaline degeneration	true	Inferred relationship	Some	4
Juvenile hyaline fibromatosis	Finding site	Bone structure	true	Inferred relationship	Some	3
Juvenile hyaline fibromatosis	Associated morphology	Osteolysis	true	Inferred relationship	Some	3
Juvenile hyaline fibromatosis	Finding site	Joint structure	true	Inferred relationship	Some	2
Juvenile hyaline fibromatosis	Associated morphology	Contracture	true	Inferred relationship	Some	2
Juvenile hyaline fibromatosis	Finding site	Skin structure	true	Inferred relationship	Some	5
Juvenile hyaline fibromatosis	Associated morphology	Fibromatosis	true	Inferred relationship	Some	5
Juvenile hyaline fibromatosis	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Associated morphology	Myofibromatosis	false	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Juvenile hyaline fibromatosis	Finding site	Skeletal system structure	false	Inferred relationship	Some
Juvenile hyaline fibromatosis	Occurrence	Congenital	false	Inferred relationship	Some
Juvenile hyaline fibromatosis	Finding site	Connective tissue	false	Inferred relationship	Some
Juvenile hyaline fibromatosis	Is a	Fibrous dysplasia of bone	false	Inferred relationship	Some
Juvenile hyaline fibromatosis	Is a	Myofibromatosis	false	Inferred relationship	Some
Juvenile hyaline fibromatosis	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
357982019	Juvenile hyaline fibromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
357983012	Puretic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
357984018	Systemic hyalinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
4696609018	Murray Puretic Drescher syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
627799017	Juvenile hyaline fibromatosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696770013	A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.	en	Definition	Active	Case sensitive	SNOMED CT core