719069008: Shprintzen Goldberg craniosynostosis syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \constatation générale à propos de l'observation du patient\constatation à propos de l'observation générale de l'apparence\Physique finding\Marfanoid physique\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Shprintzen Goldberg craniosynostosis syndrome (disorder)

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
3314857019	Shprintzen Goldberg craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314858012	Shprintzen Goldberg craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314859016	Marfanoid craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314860014	Shprintzen-Goldberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314861013	An extremely rare disorder with less than 50 cases reported to date worldwide. The disorder usually has characteristics of marfanoid habitus, craniofacial abnormalities (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities and learning disabilities. Its occurrence is sporadic and mutations in the fibrillin-1 gene have been described in some of these patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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