778070003: Autosomal dominant primary microcephaly (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Autosomal dominant primary microcephaly
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Autosomal dominant primary microcephaly
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Autosomal dominant primary microcephaly
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant primary microcephaly
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant primary microcephaly
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Autosomal dominant primary microcephaly
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Autosomal dominant primary microcephaly
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant primary microcephaly
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Autosomal dominant primary microcephaly

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737629019	Autosomal dominant primary microcephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3737630012	Autosomal dominant primary microcephaly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3737634015	A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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