400038003: syndrome de malformation congénitale (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)

\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	est un(e) (attribut)	Congenital malformation	true	Inferred relationship	Some
Congenital malformation syndrome (disorder)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Congenital malformation syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital malformation syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
syndrome d'intoxication fœtale au misoprostol	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryopathy caused by retinoid (disorder)	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryofetopathy caused by methimazole (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
fœtus ou nouveau-né affecté par le transfert placentaire ou mammaire d'alcool	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal iodine syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
syndrome fœtal dû à l'hydantoïne	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal toluene syndrome	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
malformation congénitale causée par des agents cytotoxiques	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal or neonatal effect of maternal use of alcohol	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal captopril/enalapril syndrome	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryopathy caused by mycophenolate mofetil (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal carbamazepine syndrome	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
syndrome d'intoxication fœtale à la cocaïne	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
syndrome d'intoxication fœtale aux benzodiazépines	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal minoxidil syndrome	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal primidone syndrome	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryofetopathy caused by indomethacin (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryopathy caused by phenobarbital (disorder)	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
thrombocytopénie amégacaryocytique avec malformation congénitale	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Facio-auriculo-vertebral spectrum	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Schisis association syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes due to known exogenous causes	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Klippel's disease	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
syndrome de malformations multisystémiques	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes associated with short stature	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes involving limbs	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes with metabolic disturbances	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Biemond's syndrome	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Ullrich-Feichtiger syndrome, chimera	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes with other skeletal changes	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)	Due to	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	associé à (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	associé à (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation sequence	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Acrocephalosyndactyly	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation defect spectrum	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cleft palate lateral synechia syndrome	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Bitemporal scars with abnormal eyelashes (disorder)	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cardio-acral-facial syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation association	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cardio-facio-cutaneous syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Multiple congenital anomalies of fetus	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Carpenter's syndrome	est un(e) (attribut)	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
First and second branchial arch syndrome	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Miles Carpenter type (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Abidi type (disorder)	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Family history of multiple congenital anomalies (situation)	constatation associée (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	1
Gorlin-Chaudhry-Moss syndrome	est un(e) (attribut)	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1767958011	Congenital malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1779310019	Congenital malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005370015	Multiple congenital malformations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006547017	Multiple congenital anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3393634012	syndrome congénital malformatif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
471671000172116	syndrome de malformation congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
632661000241111	syndrome de malformation congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)