782941005: Richieri Costa-da Silva syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Myotonic disorder\Richieri Costa-da Silva syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Richieri Costa-da Silva syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva 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\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myotonic disorder\Richieri Costa-da Silva syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Richieri Costa-da Silva syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Richieri Costa-da Silva syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva 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\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myotonic disorder\Richieri Costa-da Silva syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Richieri Costa-da Silva syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Richieri Costa-da Silva syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Richieri Costa-da Silva syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Myotonic disorder\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756872010	Richieri Costa-da Silva syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756873017	Myotonia, intellectual disability, skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756874011	Richieri Costa-da Silva syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756875012	A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756876013	A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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