238867003: Infantile systemic hyalinosis (disorder)

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

\Deformity (finding)\Joint deformity\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis

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

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Systemic disease affecting skin (disorder)\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
\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 (disorder)\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
\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\Infantile systemic hyalinosis

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

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

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

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

357992010 Infantile systemic hyalinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

627805011 Infantile systemic hyalinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696751015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

913151000172110 hyalinose systémique infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

942771000172119 infantiele systemische hyalinose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile systemic hyalinosis	Is a	Fibrotic disorder of skin	false	Inferred relationship	Some
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Associated morphology	Fibrosis	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin structure	true	Inferred relationship	Some	1
Infantile systemic hyalinosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Finding site	Skin and/or subcutaneous tissue structure (body structure)	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Associated morphology	Degenerative abnormality	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Fibromatosis (disorder)	false	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Dermatosis of infancy	false	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Skin lesion	false	Inferred relationship	Some
Infantile systemic hyalinosis	Associated morphology	Fibromatosis	true	Inferred relationship	Some	1
Infantile systemic hyalinosis	Occurrence	Infancy	false	Inferred relationship	Some	1
Infantile systemic hyalinosis	Is a	Lesion of joint	false	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Joint deformity	false	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Acquired skeletal deformity	false	Inferred relationship	Some
Infantile systemic hyalinosis	Finding site	Joint structure	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Associated morphology	Contracture	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Occurrence	Infancy	false	Inferred relationship	Some	2
Infantile systemic hyalinosis	Is a	Systemic disease affecting skin (disorder)	false	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	Osteoarthritis (disorder)	false	Inferred relationship	Some
Infantile systemic hyalinosis	Finding site	Joint structure	true	Inferred relationship	Some	3
Infantile systemic hyalinosis	Associated morphology	Hyaline degeneration	false	Inferred relationship	Some	3
Infantile systemic hyalinosis	Occurrence	Infancy	false	Inferred relationship	Some	3
Infantile systemic hyalinosis	Is a	Hyaline fibromatosis syndrome	true	Inferred relationship	Some
Infantile systemic hyalinosis	Associated morphology	Hyaline degeneration	true	Inferred relationship	Some	5
Infantile systemic hyalinosis	Occurrence	Congenital	true	Inferred relationship	Some	4
Infantile systemic hyalinosis	Finding site	Bone structure	true	Inferred relationship	Some	4
Infantile systemic hyalinosis	Associated morphology	Fibrous dysplasia (morphologic abnormality)	true	Inferred relationship	Some	4
Infantile systemic hyalinosis	Associated morphology	Contracture	true	Inferred relationship	Some	3
Infantile systemic hyalinosis	Finding site	Bone structure	true	Inferred relationship	Some	2
Infantile systemic hyalinosis	Associated morphology	Osteolysis (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
357992010	Infantile systemic hyalinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
627805011	Infantile systemic hyalinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696751015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
913151000172110	hyalinose systémique infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
942771000172119	infantiele systemische hyalinose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)