719140001: X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

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

\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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

3315146015 X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3315147012 X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3315148019 Prieto Badia Mulas syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	Cerebral atrophy	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	4
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Finding site	Structure of cerebrum	false	Inferred relationship	Existential restriction modifier	4
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	2
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	2
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

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
3315146015	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3315147012	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3315148019	Prieto Badia Mulas syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module