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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670335010	Microcephalic cortical malformations, short stature due to rotatin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670336011	Microcephalic cortical malformations, short stature due to RTTN (rotatin) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670338012	Microcephalic cortical malformations, short stature due to RTTN deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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