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764732004: Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3654656015 Zaki Gleeson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3654895016 Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654896015 Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654897012 Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404367013 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404368015 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviours, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Microcephalus false Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Congenital cerebellar hypoplasia true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Intellectual disability true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Congenital conduction defect (disorder) true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence Congenital true Inferred relationship Some 5
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Cardiac conducting system structure true Inferred relationship Some 5
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence Congenital true Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence Congenital true Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence Congenital true Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence Congenital true Inferred relationship Some 4
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology Hypoplasia true Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Cerebellar structure true Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Limb structure true Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Face structure false Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Limb structure false Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Face structure true Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology Congenital smallness false Inferred relationship Some 4
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Brain structure false Inferred relationship Some 4
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a Congenital microcephaly (disorder) true Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Interprets Birth head circumference true Inferred relationship Some 6
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Finding site Head structure true Inferred relationship Some 4
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Has interpretation Below reference range true Inferred relationship Some 6
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 7
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Has interpretation Impaired true Inferred relationship Some 7
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Has interpretation Impaired true Inferred relationship Some 8
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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