890434000: Cockayne syndrome type 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Cockayne syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cockayne syndrome\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.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\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.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cockayne syndrome\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome\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.
• \Disease\Developmental disorder\Developmental hereditary disorder\Cockayne syndrome\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.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\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.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\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.

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
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
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
5897191000241113	syndrome de Cockayne de type 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5897201000241110	nanisme progéroïde de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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