787407003: Muenke syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Muenke syndrome
• \Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Muenke syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muenke syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Muenke syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Muenke syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muenke syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Muenke syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Muenke syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Muenke syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3775317012	Muenke syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3775318019	Muenke syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3775320016	A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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