719069008: Shprintzen Goldberg craniosynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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)

\Finding of head and neck region\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\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)

\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)
\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)
\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\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 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\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\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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Shprintzen Goldberg craniosynostosis syndrome (disorder)
\Disease\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\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

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

11263471000172110 syndrome de Shprintzen-Goldberg associé à une craniosténose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11263481000172113 syndrome de Shprintzen-Goldberg fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11263491000172111 syndrome de Shprintzen-Goldberg avec craniosynostose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4073581000172116 marfanoïde craniosynostosesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4073591000172118 syndroom van Shprintzen-Goldberg nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Marfanoid physique	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Interprets	Physique type	true	Inferred relationship	Some	4
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	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 (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
11263471000172110	syndrome de Shprintzen-Goldberg associé à une craniosténose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11263481000172113	syndrome de Shprintzen-Goldberg	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11263491000172111	syndrome de Shprintzen-Goldberg avec craniosynostose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4073581000172116	marfanoïde craniosynostosesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4073591000172118	syndroom van Shprintzen-Goldberg	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)