782755007: Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Secondary diabetes mellitus\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Secondary diabetes mellitus\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Mild intellectual disability (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Mild intellectual disability (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755628017	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755629013	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755630015	A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4348781000052112	syndrom med primär mikrocefali, lindrig intellektuell funktionsnedsättning och diabetes med debut i barndomen	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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