720010009: Microphthalmia with brain atrophy syndrome (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
\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\Microphthalmia with brain atrophy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
\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\Microphthalmia with brain atrophy syndrome (disorder)
\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\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3318852018 Microphthalmia with brain atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318853011 Microphthalmia with brain atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318854017 Syndromic microphthalmia type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318855016 Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4685151000172116 syndroom van microftalmie en hersenatrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Microphthalmos	true	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Degenerative disorder	false	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Finding site	Brain tissue structure	true	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Finding site	Entire eye	false	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Associated morphology	Atrophy	false	Inferred relationship	Some	3
Microphthalmia with brain atrophy syndrome (disorder)	Finding site	Brain tissue structure	false	Inferred relationship	Some	3
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Finding site	Entire eye	true	Inferred relationship	Some	1
Microphthalmia with brain atrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microphthalmia with brain atrophy syndrome (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microphthalmia with brain atrophy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Degenerative brain disorder	true	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318852018	Microphthalmia with brain atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318853011	Microphthalmia with brain atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318854017	Syndromic microphthalmia type 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318855016	Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4685151000172116	syndroom van microftalmie en hersenatrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)