28861008: Crouzon syndrome (disorder)

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\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\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\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\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\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Developmental disorder\Developmental hereditary disorder\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon disease is characterised by craniosynostosis and facial hypoplasia.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5449363012 Crouzon disease is characterised by craniosynostosis and facial hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5449364018 Crouzon disease is characterized by craniosynostosis and facial hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

48325018 Crouzon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

48327014 Crouzon's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

759589015 Crouzon syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4022292014 Crouzon craniofacial dysostosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Face structure	true	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Occurrence	Congenital	false	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Multiple congenital anomalies	false	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Disorder of face (disorder)	false	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Face structure	false	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Multiple congenital anomalies	false	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	3
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Occurrence	Congenital	false	Inferred relationship	Some	4
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Face structure	false	Inferred relationship	Some	4
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Occurrence	Congenital	false	Inferred relationship	Some	5
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	5
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	5
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Occurrence	Congenital	true	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Occurrence	Congenital	true	Inferred relationship	Some	2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Associated morphology	Premature fusion	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Is a	True	Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Inferred relationship	Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5449363012	Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5449364018	Crouzon disease is characterized by craniosynostosis and facial hypoplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
48325018	Crouzon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
48327014	Crouzon's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
759589015	Crouzon syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4022292014	Crouzon craniofacial dysostosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core