890434000: Cockayne syndrome type 2 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\trouble du développement\Developmental hereditary disorder\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Cockayne syndrome type 2
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Cockayne syndrome type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4012561012	Cockayne syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4012562017	Cockayne syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4016113014	Early onset Cockayne syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4016114015	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 2 Cockayne syndrome, also known as 'severe' or 'early onset' usually presents in at or soon after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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