770725000: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

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

\Finding of head circumference\Microcephaly (finding)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Finding of brain\Disorder of brain (disorder)\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Degenerative disorder\Atrophy (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
\Disease\Developmental disorder\Developmental hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3702257012 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702258019 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702259010 A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4200981000052111 infantil cerebral och cerebellär atrofi med postnatal progressiv mikrocefali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Occurrence	Congenital	false	Inferred relationship	Some	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Occurrence	Congenital	false	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Cerebral atrophy	true	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	mikrocefali	false	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Intellectual disability	true	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Occurrence	Congenital	false	Inferred relationship	Some	3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Finding site	Cerebrum	false	Inferred relationship	Some	3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Associated morphology	Atrophy	false	Inferred relationship	Some	3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Finding site	Brain structure	false	Inferred relationship	Some	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	missbildningar i storhjärnan	false	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Dysgenesis of the cerebellum	false	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Congenital anomaly of cerebrum (disorder)	false	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Congenital degeneration of nervous system	false	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Finding site	Cerebrum	true	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Microcephaly (finding)	true	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	4
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	Chronic mental disorder	false	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Interprets	Head circumference	true	Inferred relationship	Some	3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Has interpretation	Impaired	true	Inferred relationship	Some	6
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3702257012	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702258019	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702259010	A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4200981000052111	infantil cerebral och cerebellär atrofi med postnatal progressiv mikrocefali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)