720812002: Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Skull finding\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disorder of head\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of head\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3320123018	CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322148014	CDAGS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322150018	Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322151019	Craniosynostosis, anal anomaly, porokeratosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322149018	A very rare condition with characteristics of craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions. It has been described in seven patients from four unrelated families. Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanelles and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis. Sensorineural hearing loss and mild to severe developmental delay are common. The condition is transmitted as an autosomal recessive trait.	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

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