766753005: Nijmegen breakage syndrome-like disorder (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Nijmegen breakage syndrome-like disorder (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Nijmegen breakage syndrome-like disorder (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Nijmegen breakage syndrome-like disorder (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Nijmegen breakage syndrome-like disorder (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Nijmegen breakage syndrome-like disorder (disorder)

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Nijmegen breakage syndrome-like disorder (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Nijmegen breakage syndrome-like disorder (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Nijmegen breakage syndrome-like disorder (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Nijmegen breakage syndrome-like disorder (disorder)

\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Nijmegen breakage syndrome-like disorder (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Nijmegen breakage syndrome-like disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3662497016 Nijmegen breakage syndrome-like disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3662498014 NBS-like (Nijmegen breakage syndrome-like) disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3662499018 Microcephaly and chromosomal instability without immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662500010 RAD50 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

992081000172113 syndrome de Nijmegen-like fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1011991000172111 déficit en RAD50 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

905211000172119 microcefalie en chromosomale instabiliteit zonder immuundeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

986251000172112 Nijmegen breuk-syndroom-achtige stoornis nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nijmegen breakage syndrome-like disorder (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Nijmegen breakage syndrome-like disorder (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Nijmegen breakage syndrome-like disorder (disorder)	Is a	microcéphalie	false	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Nijmegen breakage syndrome-like disorder (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Nijmegen breakage syndrome-like disorder (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Nijmegen breakage syndrome-like disorder (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Nijmegen breakage syndrome-like disorder (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Nijmegen breakage syndrome-like disorder (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Nijmegen breakage syndrome-like disorder (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Nijmegen breakage syndrome-like disorder (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Nijmegen breakage syndrome-like disorder (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Nijmegen breakage syndrome-like disorder (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Nijmegen breakage syndrome-like disorder (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3662496013	Nijmegen breakage syndrome-like disorder (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662497016	Nijmegen breakage syndrome-like disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662498014	NBS-like (Nijmegen breakage syndrome-like) disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662499018	Microcephaly and chromosomal instability without immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662500010	RAD50 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
992081000172113	syndrome de Nijmegen-like	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1011991000172111	déficit en RAD50	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
905211000172119	microcefalie en chromosomale instabiliteit zonder immuundeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
986251000172112	Nijmegen breuk-syndroom-achtige stoornis	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)