1169362009: Overgrowth syndrome with 2q37 translocation (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\Overgrowth syndrome with 2q37 translocation
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\Overgrowth syndrome with 2q37 translocation
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Disorder of skeletal system\Overgrowth syndrome with 2q37 translocation
• \Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal translocation\Overgrowth syndrome with 2q37 translocation
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 2 (trouble)\Overgrowth syndrome with 2q37 translocation
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Overgrowth syndrome with 2q37 translocation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 2 (trouble)\Overgrowth syndrome with 2q37 translocation
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Overgrowth syndrome with 2q37 translocation
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\trouble du développement\anomalie staturale\Overgrowth syndrome with 2q37 translocation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4607808019	Overgrowth syndrome with 2q37 translocation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4607809010	Overgrowth syndrome with 2q37 translocation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4607810017	A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.	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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