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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
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
3654898019 A rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behavior, 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
3654899010 A rare genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviour, 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
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
3428641001000113 Mikrozephalie-zerebelläre Hypoplasie-kardiale Reizleitungsstörung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879041000172112 syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879041000172112 syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428641001000113 Mikrozephalie-zerebelläre Hypoplasie-kardiale Reizleitungsstörung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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