764732004: síndrome de microcefalia, hipoplasia de cerebelo y defecto de conducción cardíaca (trastorno)

• concepto de SNOMED CT\Clinical finding (finding)\...
• \Viscus structure finding (finding)\hallazgo cardíaco\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\hallazgo relacionado con el perímetro cefálico\microcefalia\microcefalia congénita\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\hallazgo relacionado con la región de la cabeza (hallazgo)\hallazgo relacionado con el rostro (hallazgo)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\anomalía congénita de la cabeza\microcefalia congénita\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\anomalía congénita de la cabeza\Congenital anomaly of face (disorder)\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\discapacidad intelectual (trastorno)\discapacidad intelectual de causa genética\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en la medición corporal\hallazgo relacionado con el perímetro cefálico\microcefalia\microcefalia congénita\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en la estructura de las extremidades\trastorno de extremidad (trastorno)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo relacionado con la estructura del tronco\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo relacionado con la estructura del tronco\Finding of upper trunk (finding)\hallazgo de región de tórax (hallazgo)\hallazgo relacionado con el mediastino (hallazgo)\hallazgo cardíaco\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo relacionado con la estructura del tronco\Finding of upper trunk (finding)\hallazgo de región de tórax (hallazgo)\hallazgo relacionado con el mediastino (hallazgo)\Disorder of mediastinum (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo relacionado con la estructura del tronco\Finding of upper trunk (finding)\hallazgo de región de tórax (hallazgo)\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo relacionado con la estructura del tronco\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo funcional\Cognitive function finding (finding)\Impaired cognition (finding)\discapacidad intelectual (trastorno)\discapacidad intelectual de causa genética\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo funcional\Cognitive function finding (finding)\hallazgo relacionado con la capacidad intelectual (hallazgo)\discapacidad intelectual (trastorno)\discapacidad intelectual de causa genética\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo funcional\hallazgo en el campo de la inteligencia\hallazgo relacionado con la capacidad intelectual (hallazgo)\discapacidad intelectual (trastorno)\discapacidad intelectual de causa genética\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema cardiovascular\hallazgo cardíaco\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema cardiovascular\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema cardiovascular\Disorder of cardiovascular system (disorder)\trastorno hereditario del aparato cardiovascular\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \hallazgo en el sistema cardiovascular\Disorder of cardiovascular system (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\enfermedad genética\discapacidad intelectual de causa genética\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\enfermedad genética\Hereditary disease\trastorno hereditario por sistema orgánico\trastorno hereditario del sistema nervioso\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\enfermedad genética\Hereditary disease\trastorno hereditario por sistema orgánico\trastorno hereditario del aparato cardiovascular\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\enfermedad genética\Hereditary disease\trastorno hereditario congénito\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\enfermedad genética\Hereditary disease\Autosomal hereditary disorder\trastorno hereditario autosómico recesivo\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\Congenital cardiovascular disorder (disorder)\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\Congenital malformation syndrome (disorder)\síndrome de malformaciones congénitas múltiples\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\Congenital malformation syndrome (disorder)\síndrome de malformaciones congénitas múltiples\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\anomalía congénita del sistema nervioso\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\anomalía congénita del sistema nervioso\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\anomalía congénita de la cabeza\microcefalia congénita\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\anomalía congénita de la cabeza\Congenital anomaly of face (disorder)\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno fetal y/o neonatal\enfermedad congénita\malformación congénita\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\trastorno hereditario por sistema orgánico\trastorno hereditario del sistema nervioso\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\trastorno hereditario por sistema orgánico\trastorno hereditario del aparato cardiovascular\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\trastorno hereditario del sistema nervioso\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\anomalía congénita del sistema nervioso\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\anomalía congénita del sistema nervioso\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of cardiovascular system (disorder)\trastorno hereditario del aparato cardiovascular\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of cardiovascular system (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de sistema corporal\Disorder of mediastinum (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\trastorno de extremidad (trastorno)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease (disorder)\Cardiac arrhythmia (disorder)\Conduction disorder of the heart\defecto congénito de conducción\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\anomalía congénita de la cabeza\microcefalia congénita\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\anomalía congénita de la cabeza\Congenital anomaly of face (disorder)\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\Neurodevelopmental disorder\discapacidad intelectual (trastorno)\discapacidad intelectual de causa genética\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\trastorno hereditario congénito\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\Congenital malformation syndrome (disorder)\síndrome de malformaciones congénitas múltiples\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\Congenital malformation syndrome (disorder)\síndrome de malformaciones congénitas múltiples\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\anomalía congénita del sistema nervioso\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\anomalía congénita del sistema nervioso\anomalía congénita del sistema nervioso central\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\anomalía congénita de la cabeza\microcefalia congénita\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\anomalía congénita de la cabeza\Congenital anomaly of face (disorder)\síndrome de malformaciones múltiples con anomalías faciales como característica principal\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\Congenital hypoplasia of brain\hipoplasia congénita de parte del cerebro\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\anomalía congénita de la cabeza\Congenital anomaly of brain (disorder)\disgenesia del cerebelo\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \enfermedad\Developmental disorder (disorder)\malformación congénita\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

Status: current, estado de definición de concepto necesario pero no suficiente (metadato del núcleo). Date: 31-Jul 2018. Module: módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654656015	Zaki Gleeson syndrome	en	sinónimo (metadato del núcleo)	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
3654895016	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
3654896015	Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
3654897012	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)	en	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
725731000209117	síndrome de microcefalia, hipoplasia de cerebelo y defecto de conducción cardíaca (trastorno)	es	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
725741000209114	síndrome de microcefalia, hipoplasia de cerebelo y defecto de conducción cardíaca	es	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
1045411000209116	Un síndrome raro, de causa genética, de anomalías congénitas/dismorfismos, caracterizadas por falta de crecimiento, retraso global del desarrollo, discapacidad intelectual profunda, conducta autista, bloqueo cardíaco de segundo grado adquirido, con bradicardia e inestabilidad vasomotriz. Se observan dedos fusiformes largos en manos y pies, camptodactilia, clinodactilia y dedos de los pies apiñados, mientras que el dismorfismo craneofacial incluye microcefalia, frente ancha, cejas delgadas, fisuras palpebrales con inclinación mongoloide, orejas grandes con antihélice prominente, nariz grande, filtrum largo, bermellón de labio superior delgado y labio inferior prominente. Los signos neurológicos incluyen hipotonía, reflejos bruscos, movimientos distónicos y atxia de tronco. Los estudios de imágenes muestran hipoplasia de cerebelo y patrón de circunvoluciones simplificado.	es	definición	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	Latin American Spanish extension module
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	definición	Inactive	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
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	definición	Inactive	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
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	definición	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
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	definición	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)

Expanded Value Set

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conjunto de referencia de anotación de componente con valor de cadena de caracteres (metadato fundacional)

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