722117000: Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330765010	Osteosclerosis, developmental delay, craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402833011	This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402834017	This newly described syndrome is characterised by osteosclerosis, developmental delay and craniosynostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330762013	Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330762013	Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330765010	Osteosclerosis, developmental delay, craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330765010	Osteosclerosis, developmental delay, craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402833011	This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402834017	This newly described syndrome is characterised by osteosclerosis, developmental delay and craniosynostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440261001000114	Osteosklerose-Entwicklungsverzögerung-Kraniosynostose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6455681000241113	syndrome d'ostéosclérose, retard de développement et craniosténose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6455691000241110	syndrome d'ostéosclérose, retard de développement et craniosynostose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6455681000241113	syndrome d'ostéosclérose, retard de développement et craniosténose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6455691000241110	syndrome d'ostéosclérose, retard de développement et craniosynostose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440261001000114	Osteosklerose-Entwicklungsverzögerung-Kraniosynostose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start