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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Finding of head region\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\retard de développement\Global developmental delay\Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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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