773230003: Cyclin-dependent kinase-like 5 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Cyclin-dependent kinase-like 5 deficiency
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Finding of brain\Encephalopathy\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Disorder of head\Encephalopathy\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cyclin-dependent kinase-like 5 deficiency
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Cyclin-dependent kinase-like 5 deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cyclin-dependent kinase-like 5 deficiency
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Cyclin-dependent kinase-like 5 deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cyclin-dependent kinase-like 5 deficiency
• \Disease\Developmental disorder\Developmental delay\Cyclin-dependent kinase-like 5 deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3722623018	Cyclin-dependent kinase-like 5 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3722624012	CDKL5 (cyclin-dependent kinase-like 5) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3722625013	CDKL5 deficiency disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
3722626014	Cyclin-dependent kinase-like 5 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3722628010	CDKL5-related epileptic encephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3722627017	Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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