28861008: Crouzon syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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
• \Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Crouzon syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Crouzon syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Crouzon syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Crouzon syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Crouzon syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\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
4022292014	Crouzon craniofacial dysostosis	en	Synonym (core metadata concept)	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
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

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