1251452003: 4q25 proximal deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\4q25 proximal deletion syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\4q25 proximal deletion syndrome
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\4q25 proximal deletion syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\4q25 proximal deletion syndrome
• \Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
• \Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
• \Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
• \Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\4q25 proximal deletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5133553013	Proximal monosomy 4q25	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5133554019	4q25 proximal deletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5133555018	4q25 proximal deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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