722117000: Osteosclerosis, developmental delay, craniosynostosis 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\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330762013	Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330765010	Osteosclerosis, developmental delay, craniosynostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330770015	Syndrome with characteristics of osteosclerosis, developmental delay and craniosynostosis. It has been reported in 13 patients from a four-generation family. Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw. A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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