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890432001: Cockayne syndrome type 3 (disorder)


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
4012557018 Cockayne syndrome type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4012558011 Cockayne syndrome type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4016099011 Cockayne syndrome type C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4016106014 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 and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cockayne syndrome type 3 Is a Cockayne syndrome true Inferred relationship Some
Cockayne syndrome type 3 Finding site Structure of central nervous system (body structure) true Inferred relationship Some 1
Cockayne syndrome type 3 Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Cockayne syndrome type 3 Occurrence Congenital true Inferred relationship Some 1
Cockayne syndrome type 3 Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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