766753005: Nijmegen breakage syndrome-like disorder (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Nijmegen breakage syndrome-like disorder
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Nijmegen breakage syndrome-like disorder
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Nijmegen breakage syndrome-like disorder
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Nijmegen breakage syndrome-like disorder
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Nijmegen breakage syndrome-like disorder
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Nijmegen breakage syndrome-like disorder
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Nijmegen breakage syndrome-like disorder
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Nijmegen breakage syndrome-like disorder

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662496013	Nijmegen breakage syndrome-like disorder (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3662497016	Nijmegen breakage syndrome-like disorder	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3662498014	NBS-like (Nijmegen breakage syndrome-like) disorder	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3662499018	Microcephaly and chromosomal instability without immunodeficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3662500010	RAD50 deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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