719136005: X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\X-linked intellectual disability with cerebellar hypoplasia syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome

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

\Finding of brain\Disorder of brain\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\X-linked intellectual disability with cerebellar hypoplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability with cerebellar hypoplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3315129018 X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3315132015 X-linked intellectual disability with cerebellar hypoplasia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3315133013 OPHN1 syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3315134019 Oligophrenin-1 syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with cerebellar hypoplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with cerebellar hypoplasia syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	X-linked dominant hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
X-linked intellectual disability with cerebellar hypoplasia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
X-linked intellectual disability with cerebellar hypoplasia syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
X-linked intellectual disability with cerebellar hypoplasia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3315129018	X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3315132015	X-linked intellectual disability with cerebellar hypoplasia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3315133013	OPHN1 syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3315134019	Oligophrenin-1 syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module