766992008: Multicentric carpotarsal osteolysis syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Multicentric carpotarsal osteolysis syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multicentric carpotarsal osteolysis syndrome
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
• \Disease\maladie idiopathique\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Multicentric carpotarsal osteolysis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3663608017	Multicentric carpotarsal osteolysis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663609013	Multicentric carpotarsal osteolysis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663610015	A very rare syndrome with characteristics of progressive loss of bone usually of the carpal and tarsal bones resulting in deformity and disability and accompanied by chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. There is evidence the disease is caused by heterozygous mutation in the MAFB gene on chromosome 20q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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