1332508004: Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder)

\Disorder of eye region (disorder)\CIMDAG syndrome

\Congenital anomaly of visual system\CIMDAG syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\CIMDAG syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\CIMDAG syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\CIMDAG syndrome

\Disease\Genetic disease\CIMDAG syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\CIMDAG syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\CIMDAG syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\CIMDAG syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\CIMDAG syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\CIMDAG syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\CIMDAG syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\CIMDAG syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\CIMDAG syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\CIMDAG syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\CIMDAG syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\CIMDAG syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\CIMDAG syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\CIMDAG syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\CIMDAG syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\CIMDAG syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5354678016 CIMDAG syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5354679012 Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5354680010 Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5354681014 Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5354684018 CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5354685017 CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5354682019 A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5354683012 A rare multiple congenital anomalies/dysmorphic syndrome characterised by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anaemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CIMDAG syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
CIMDAG syndrome	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
CIMDAG syndrome	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
CIMDAG syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
CIMDAG syndrome	Is a	Disorder of eye region (disorder)	true	Inferred relationship	Some
CIMDAG syndrome	Is a	Genetic disease	true	Inferred relationship	Some
CIMDAG syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
CIMDAG syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
CIMDAG syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
CIMDAG syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
CIMDAG syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
CIMDAG syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	6
CIMDAG syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
CIMDAG syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
CIMDAG syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
CIMDAG syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1
CIMDAG syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
CIMDAG syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
CIMDAG syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	2
CIMDAG syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
CIMDAG syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
CIMDAG syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
CIMDAG syndrome	Finding site	Eye region structure (body structure)	true	Inferred relationship	Some	3
CIMDAG syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
CIMDAG syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5354678016	CIMDAG syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354679012	Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5354680010	Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5354681014	Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5354684018	CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354685017	CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354682019	A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354683012	A rare multiple congenital anomalies/dysmorphic syndrome characterised by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anaemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core