702361006: Crouzon syndrome with acanthosis nigricans (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\Crouzon syndrome with acanthosis nigricans (disorder)
• \Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\...
• \Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \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)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \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)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \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)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\Crouzon syndrome with acanthosis nigricans (disorder)
• \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\Crouzon syndrome with acanthosis nigricans (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995059010	Crouzon syndrome with acanthosis nigricans (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995457019	Crouzon syndrome with acanthosis nigricans	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3010153011	Crouzonodermoskeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4022295011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start