238867003: Infantile systemic hyalinosis (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Joint deformity\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\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\affection de la peau (trouble)\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \masse d'une structure corporelle\masse d'une structure musculosquelettique\tumeur du système musculo-squelettique\Neoplasm of skeletal system (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Infantile systemic hyalinosis
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\masse d'une structure musculosquelettique\tumeur du système musculo-squelettique\Neoplasm of skeletal system (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\Joint finding\Lesion of joint\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\Joint finding\Joint deformity\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\tumeur du système musculo-squelettique\Neoplasm of skeletal system (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Infantile systemic hyalinosis
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\Disorder of joint region\Arthropathy (disorder)\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\Genetic disease\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Infantile systemic hyalinosis
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Infantile systemic hyalinosis
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile systemic hyalinosis
• \Disease\Fibromatosis (disorder)\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\néoplasme et/ou hamartome\maladie néoplasique\tumeur du système musculo-squelettique\Neoplasm of skeletal system (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\néoplasme et/ou hamartome\maladie néoplasique\tumeur bénigne\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\tumeur du système musculo-squelettique\Neoplasm of skeletal system (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\Congenital disease\Fibrous dysplasia of bone\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\maladie systémique\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\pathologies systémiques avec manifestations cutanées\Hyaline fibromatosis syndrome\Infantile systemic hyalinosis
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\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
550021000241117	hyalinose systémique infantile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
627805011	Infantile systemic hyalinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
913151000172110	hyalinose systémique infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

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