722390006: syndrome de pseudo-infection intra-utérine congénitale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\syndrome de pseudo-infection intra-utérine congénitale
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de pseudo-infection intra-utérine congénitale
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\affection dégénérative\Calcinosis\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\trouble du développement\Developmental hereditary disorder\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de pseudo-infection intra-utérine congénitale
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de pseudo-infection intra-utérine congénitale

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1011161000172115	syndrome de pseudo-infection intra-utérine congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3331817014	Congenital intrauterine infection-like syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331818016	Congenital intrauterine infection-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331819012	Baraitser Brett Piesowicz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331820018	Bilateral band-like calcification with polymicrogyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331821019	Microcephaly, intracranial calcification, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331822014	Pseudo-TORCH syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
758661000241115	syndrome de pseudo-infection intra-utérine congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
926421000172113	BLC-PMG - bilateral band-like calcification with polymicrogyria	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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