766871009: Diencephalic mesencephalic junction dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Diencephalic mesencephalic junction dysplasia

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia

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

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Diencephalic mesencephalic junction dysplasia
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Diencephalic mesencephalic junction dysplasia
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Diencephalic mesencephalic junction dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Diencephalic mesencephalic junction dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diencephalic mesencephalic junction dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diencephalic mesencephalic junction dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Diencephalic mesencephalic junction dysplasia
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Diencephalic mesencephalic junction dysplasia
\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 anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\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 anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Diencephalic mesencephalic junction dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Diencephalic mesencephalic junction dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia

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

3662965012 Diencephalic mesencephalic junction dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3662966013 Diencephalic mesencephalic junction dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diencephalic mesencephalic junction dysplasia	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Diencephalic mesencephalic junction dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diencephalic mesencephalic junction dysplasia	Is a	Anomalies of cerebrum	false	Inferred relationship	Existential restriction modifier
Diencephalic mesencephalic junction dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Diencephalic mesencephalic junction dysplasia	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	1
Diencephalic mesencephalic junction dysplasia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Diencephalic mesencephalic junction dysplasia	Finding site	Structure of cerebrum	false	Inferred relationship	Existential restriction modifier	2
Diencephalic mesencephalic junction dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Diencephalic mesencephalic junction dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Diencephalic mesencephalic junction dysplasia	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Diencephalic mesencephalic junction dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Diencephalic mesencephalic junction dysplasia	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	1
Diencephalic mesencephalic junction dysplasia	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Diencephalic mesencephalic junction dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Diencephalic mesencephalic junction dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Diencephalic mesencephalic junction dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Diencephalic mesencephalic junction dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Diencephalic mesencephalic junction dysplasia	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Existential restriction modifier
Diencephalic mesencephalic junction dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diencephalic mesencephalic junction dysplasia	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Diencephalic mesencephalic junction dysplasia	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Diencephalic mesencephalic junction dysplasia	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Diencephalic mesencephalic junction dysplasia	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

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
3662965012	Diencephalic mesencephalic junction dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3662966013	Diencephalic mesencephalic junction dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module