1187195007: Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Finding of brain\Encephalopathy\...
• \Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Finding of head region\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disorder of head\Encephalopathy\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Microcephalic cortical malformations, short stature due to RTTN deficiency
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic cortical malformations, short stature due to RTTN deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4670333015	Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4670335010	Microcephalic cortical malformations, short stature due to rotatin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4670336011	Microcephalic cortical malformations, short stature due to RTTN (rotatin) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670338012	Microcephalic cortical malformations, short stature due to RTTN deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670337019	A rare genetic neurodevelopmental disorder with primordial microcephaly, with characteristics of primary microcephaly, moderate to severe intellectual disability and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe. Germline biallelic variants in RTTN (18q22.2) are responsible for the disease. The pattern of inheritance is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

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Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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