719069008: marfanoïde craniosynostosesyndroom (aandoening)

• 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\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \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\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \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\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Finding of general observation of appearance\Physique finding\Marfanoid physique\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\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
6802221000146115	marfanoïde craniosynostosesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6861931000146116	marfanoïde craniosynostosesyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6861941000146112	syndroom van Shprintzen-Goldberg	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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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