702354007: syndroom van X-gebonden verstandelijke beperking, craniofaciale dysmorfie, epilepsie, oftalmoplegie en cerebellaire atrofie (aandoening)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Christianson syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Christianson syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Christianson syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Christianson syndrome

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Christianson syndrome

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Christianson syndrome

\Cerebellar ataxia\Christianson syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Christianson syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Christianson syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Christianson syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Christianson syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Christianson syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Christianson syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Christianson syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Christianson syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Christianson syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Christianson syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Christianson syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Christianson syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Christianson syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Christianson syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Christianson syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Christianson syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Christianson syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Christianson syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Christianson syndrome	Is a	Microcephaly (finding)	true	Inferred relationship	Some
Christianson syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Christianson syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Christianson syndrome	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Christianson syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Christianson syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Christianson syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	3
Christianson syndrome	Interprets	Head circumference	true	Inferred relationship	Some	2
Christianson syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Christianson syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Christianson syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Christianson syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Christianson syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Christianson syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Christianson syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Christianson syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Christianson syndrome	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

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
2995300011	Christianson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636956015	X-linked Angelman-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636976014	X-linked intellectual developmental disorder Christianson type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636977017	X-linked intellectual developmental disorder Christianson type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6174971000146119	X-gebonden mentale retardatie-microcefalie-epilepsie-ataxie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6174991000146115	X-gebonden Angelman-achtig syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6175001000146114	X-gebonden intellectuele achterstand van Zuid-Afrikaans type	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6175011000146111	Christianson-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6678821000146115	syndroom van X-gebonden mentale retardatie, craniofaciale dysmorfie, epilepsie, oftalmoplegie en cerebellaire atrofie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494461000146110	syndroom van X-gebonden verstandelijke beperking, craniofaciale dysmorfie, epilepsie, oftalmoplegie en cerebellaire atrofie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7570541000146118	syndroom van X-gebonden verstandelijke beperking, craniofaciale dysmorfie, epilepsie, oftalmoplegie en cerebellaire atrofie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7586071000146113	syndroom van X-gebonden verstandelijke handicap, craniofaciale dysmorfie, epilepsie, oftalmoplegie en cerebellaire atrofie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)