733604003: Microcephalus, lymphedema, chorioretinopathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalus, lymphoedema, chorioretinopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus, lymphoedema, chorioretinopathy syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3500036015	Microcephalus, lymphedema, chorioretinopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3500037012	Microcephalus, lymphedema, chorioretinopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3500040012	MLCRD (microcephaly with or without chorioretinopathy, lymphoedema or intellectual disability) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3500041011	MLCRD (microcephaly with or without chorioretinopathy, lymphedema or intellectual disability) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3500042016	Microcephalus, lymphoedema, chorioretinopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3500038019	A rare autosomal dominant condition characterised by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphoedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognised. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.	en	Definition	Active	Case sensitive	SNOMED CT core
3500039010	A rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognized. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.	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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