766753005: Nijmegen breakage syndrome-like disorder (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\Nijmegen breakage syndrome-like disorder
• \Functional finding\Intelligence finding\Intellectual ability - finding\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\Nijmegen breakage syndrome-like disorder
• \Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662496013	Nijmegen breakage syndrome-like disorder (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3662497016	Nijmegen breakage syndrome-like disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
3662498014	NBS-like (Nijmegen breakage syndrome-like) disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
3662499018	Microcephaly and chromosomal instability without immunodeficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3662500010	RAD50 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3662501014	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionising radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.	en	Definition	Active	Case sensitive	SNOMED CT core
3662502019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start