719069008: Shprintzen Goldberg craniosynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Shprintzen Goldberg craniosynostosis 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 craniosynostosis syndrome

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Shprintzen Goldberg craniosynostosis syndrome

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3314857019 Shprintzen Goldberg craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3314858012 Shprintzen Goldberg craniosynostosis syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3314859016 Marfanoid craniosynostosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3314860014 Shprintzen-Goldberg syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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