1172628002: TBC1 domain containing kinase-related intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\TBCK-related intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\TBCK-related intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\TBCK-related intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\TBCK-related intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\TBCK-related intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\TBCK-related intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\TBCK-related intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\TBCK-related intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634855017	TBCK-related intellectual disability syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4634856016	TBC1 domain containing kinase-related intellectual disability syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4634857013	TBC1 domain containing kinase-related intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4634858015	A rare genetic syndromic intellectual disability with characteristics of usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphism (including plagiocephaly/brachycephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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