1169363004: Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Disorder of skeletal system\Congenital skeletal dysplasia\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4607811018	Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4607812013	Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4607813015	Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4607814014	A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodelling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	en	Definition	Active	Case sensitive	SNOMED CT core
4607815010	A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	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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