722390006: Congenital intrauterine infection-like syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Congenital intrauterine infection-like syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Congenital intrauterine infection-like syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Congenital intrauterine infection-like syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital intrauterine infection-like syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital intrauterine infection-like syndrome
• \Disease\Degenerative disorder\Calcinosis\Congenital intrauterine infection-like syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Congenital intrauterine infection-like syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital intrauterine infection-like syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Congenital intrauterine infection-like syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital intrauterine infection-like syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital intrauterine infection-like syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Congenital intrauterine infection-like syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331817014	Congenital intrauterine infection-like syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331818016	Congenital intrauterine infection-like syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331819012	Baraitser Brett Piesowicz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331820018	Bilateral band-like calcification with polymicrogyria	en	Synonym	Active	Case insensitive	SNOMED CT core
3331821019	Microcephaly, intracranial calcification, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331822014	Pseudo-TORCH syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3331823016	Syndrome with the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. The clinical presentation of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly, cerebellar hypoplasia or atrophy and congenital cataract. The cause remains unknown. Several familial cases, compatible with an autosomal recessive pattern of inheritance have been described.	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

Description inactivation indicator reference set

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