1172898008: Kosaki overgrowth 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\Kosaki overgrowth syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Disorder of skeletal system\Congenital skeletal dysplasia\Kosaki overgrowth syndrome
• \Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Kosaki overgrowth syndrome
• \Disease\Genetic disease\Kosaki overgrowth syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Kosaki overgrowth syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Kosaki overgrowth syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Kosaki overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Kosaki overgrowth syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Kosaki overgrowth syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Kosaki overgrowth syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4636385019	Kosaki overgrowth syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4636386018	Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4636387010	Kosaki overgrowth syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4636388017	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip and pointed chin) hyperelastic, thin and fragile skin, lipodystrophy and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation and cerebrovascular complications among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.	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

Back to Start