56604005: Cohen syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Cohen syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cohen syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Cohen syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

94131019 Cohen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
795135010 Cohen syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
875141000172113 syndrome de Cohen fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
882811000172118 Cohen-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
888571000172111 syndroom van Cohen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cohen syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Cohen syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Cohen syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cohen syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Cohen syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Cohen syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Cohen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cohen syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Cohen syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cohen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cohen syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
periodontitis gelijktijdig met syndroom van Cohen	Is a	False	Cohen syndrome	Inferred relationship	Some

Reference Sets

Belgian subset for medical problems in patient health records