1169362009: Overgrowth syndrome with 2q37 translocation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Overgrowth syndrome with 2q37 translocation
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Overgrowth syndrome with 2q37 translocation
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Disorder of skeletal system\Overgrowth syndrome with 2q37 translocation
• \Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal translocation\Overgrowth syndrome with 2q37 translocation
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Overgrowth syndrome with 2q37 translocation
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth syndrome with 2q37 translocation
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Overgrowth syndrome with 2q37 translocation
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth syndrome with 2q37 translocation
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
• \Disease\Developmental disorder\Disorder of stature\Overgrowth syndrome with 2q37 translocation

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4607808019	Overgrowth syndrome with 2q37 translocation	en	Synonym	Active	Case insensitive	SNOMED CT core
4607809010	Overgrowth syndrome with 2q37 translocation (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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