715981004: Autosomal recessive primary microcephaly (disorder)

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

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304306016	Autosomal recessive primary microcephaly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304307013	Autosomal recessive primary microcephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3311024018	Microcephalia vera	en	Synonym	Active	Case insensitive	SNOMED CT core
3311025017	True microcephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3304308015	Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive.	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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