28861008: dysostosis craniofacialis hereditaria (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\Crouzon syndrome
\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome
\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 syndrome
\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 syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Crouzon syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome

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

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

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

1454051000146112 Crouzon-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2628851000146112 dysostosis craniofacialis hereditaria (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2628861000146110 dysostosis craniofacialis hereditaria nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3112211000146113 ziekte van Crouzon nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7074611000146114 syndroom van Crouzon nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4022294010 Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7577741000146110 Dit is een stoornis bij de skeletvorming met als kenmerken schedelmisvormingen, een vergrote afstand tussen de ogen en uitpuilende ogen. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Crouzon syndrome with acanthosis nigricans (disorder)	Is a	True	Crouzon syndrome	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
1454051000146112	Crouzon-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2628851000146112	dysostosis craniofacialis hereditaria (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2628861000146110	dysostosis craniofacialis hereditaria	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3112211000146113	ziekte van Crouzon	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7074611000146114	syndroom van Crouzon	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4022294010	Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7577741000146110	Dit is een stoornis bij de skeletvorming met als kenmerken schedelmisvormingen, een vergrote afstand tussen de ogen en uitpuilende ogen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)