719069008: Shprintzen Goldberg craniosynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Shprintzen-Goldberg syndrome

\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\Shprintzen-Goldberg syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Shprintzen-Goldberg syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Shprintzen-Goldberg syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Shprintzen-Goldberg syndrome

\General finding of observation of patient\Finding of general observation of appearance\Physique finding\Marfanoid physique\Shprintzen-Goldberg syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Shprintzen-Goldberg syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Shprintzen-Goldberg syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shprintzen-Goldberg syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Shprintzen-Goldberg syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Shprintzen-Goldberg syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Shprintzen-Goldberg syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shprintzen-Goldberg syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Shprintzen-Goldberg syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Shprintzen-Goldberg syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Shprintzen-Goldberg syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Shprintzen-Goldberg syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Shprintzen-Goldberg syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Shprintzen-Goldberg syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Shprintzen-Goldberg syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen-Goldberg syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3314858012 Shprintzen Goldberg craniosynostosis syndrome en Synonym Active Case sensitive SNOMED CT core

3314859016 Marfanoid craniosynostosis syndrome en Synonym Active Case insensitive SNOMED CT core

3314860014 Shprintzen-Goldberg syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Shprintzen-Goldberg syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Shprintzen-Goldberg syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Shprintzen-Goldberg syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Shprintzen-Goldberg syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Shprintzen-Goldberg syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Shprintzen-Goldberg syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Shprintzen-Goldberg syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Shprintzen-Goldberg syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Shprintzen-Goldberg syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Shprintzen-Goldberg syndrome	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Shprintzen-Goldberg syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Shprintzen-Goldberg syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Shprintzen-Goldberg syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Shprintzen-Goldberg syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Is a	Marfanoid physique	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Shprintzen-Goldberg syndrome	Interprets	Physique type	true	Inferred relationship	Some	4
Shprintzen-Goldberg syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Shprintzen-Goldberg syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Shprintzen-Goldberg syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	5
Shprintzen-Goldberg syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	5
Shprintzen-Goldberg syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Shprintzen-Goldberg syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
Shprintzen-Goldberg syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314857019	Shprintzen Goldberg craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314858012	Shprintzen Goldberg craniosynostosis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3314859016	Marfanoid craniosynostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314860014	Shprintzen-Goldberg syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core