890433006: Cockayne syndrome type 1 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Developmental disorder\Developmental hereditary disorder\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Cockayne syndrome type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 1

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4012559015	Cockayne syndrome type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
4012560013	Cockayne syndrome type 1 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4016098015	Classical Cockayne syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4016101016	Cockayne syndrome type A	en	Synonym	Active	Case sensitive	SNOMED CT core
4016108010	Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 1 Cockayne syndrome, also 'classic' or 'moderate' usually presents in early childhood.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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