276654001: malformation congénitale (trouble)

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

\Congenital disease\Congenital malformation

\trouble du développement\Congenital malformation

Status: current, 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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital malformation	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Congenital malformation	est un(e) (attribut)	trouble du développement	true	Inferred relationship	Some
Congenital malformation	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Congenital malformation	est un(e) (attribut)	Congenital anomaly (disorder)	false	Inferred relationship	Some
Congenital malformation	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Congenital malformation	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital malformation	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Congenital malformation	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital malformation	est un(e) (attribut)	Congenital disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Correction of congenital deformity of hindfoot (procedure)	a pour objet (attribut)	False	Congenital malformation	Inferred relationship	Some	3
Correction of congenital deformity of shoulder or upper arm	a pour objet (attribut)	False	Congenital malformation	Inferred relationship	Some	1
libération antérieure des articulations du pied pour correction d'une anomalie morphologique congénitale du pied	a pour objet (attribut)	False	Congenital malformation	Inferred relationship	Some	1
Correction of congenital deformity of forearm	a pour objet (attribut)	False	Congenital malformation	Inferred relationship	Some	3
Hereditary elliptocytosis	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Mullerian aplasia	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
situs inversus viscerum	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Congenital malformation caused by valproic acid	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
11p15 duplication syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
17q24-qter duplication syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
20p12.2 deletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
3p25.3 deletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
5q22.2 deletion syndrome	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
9p24.3 deletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
9q34 deletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
7p partial monosomy (disorder)	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
22q11.2 duplication syndrome (disorder)	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital malformation of lymphatic system of cervicofacial region (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Paternal 14q32.2 microdeletion (disorder)	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Pulmonary hypertension due to developmental abnormality (disorder)	Due to	True	Congenital malformation	Inferred relationship	Some	2
Ventriculomegaly due to developmental anomaly	Due to	True	Congenital malformation	Inferred relationship	Some	2
17q11 deletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
éléphantiasis congénital	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Distal 7q11.23 microduplication syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Distal trisomy 7p syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
syndrome de microdélétion 1p21.3	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
1q21.1 microdeletion	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Cat eye syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
22q13.3 deletion syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 22 syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
syndrome de Down (trouble)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Congenital hereditary endothelial dystrophy (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Distal trisomy 20q syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
syndrome de microdélétion 16p11.2 proximale	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Distal 16p11.2 microdeletion syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
FRAXF syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Distal monosomy 7p syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
7p12-p14 deletion syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
7p21.1 deletion syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Distal 7q11.23 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
syndrome de microdélétion 7q31	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Mosaic trisomy 10 syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Distal monosomy 12p	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
12q15q21.1 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
15q11.2 microdeletion syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
15q13.3 microdeletion	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Isodicentric chromosome 15 syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
15q13.3 microduplication syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
15q11q13 microduplication syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
16q24.1 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
16q24.3 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 16 syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Proximal 16p11.2 microduplication syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
16p13.11 microduplication syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
syndrome de microduplication 16p11.2p12.2	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
2q24 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 18 syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
13q partial monosomy syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Trisomy 13, meiotic nondisjunction	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Trisomy 13 - mitotic nondisjunction mosaicism	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Oculootodental syndrome	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Color Doppler ultrasound with spectral display for congenital anomaly	a pour objet (attribut)	True	Congenital malformation	Inferred relationship	Some	2
Congenital anomaly of craniovertebral junction (disorder)	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Correction of congenital anomaly (procedure)	a pour objet (attribut)	True	Congenital malformation	Inferred relationship	Some	2
Situs ambiguus	est un(e) (attribut)	True	Congenital malformation	Inferred relationship	Some
Lymphatic malformation	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Arterial malformation	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Venous malformation	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital stenosis of cervical canal	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Accessory spleen	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Agenesis of punctum lacrimale	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Fistula of branchial cleft	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital uterointestinal fistula	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital absence of pituitary gland	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Accessory pituitary gland	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Aberrant parathyroid gland	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Neuronal choristoma	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Bifid nail	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital absence of nose	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital absence of breast	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital rectovaginal fistula	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital absence of vulva	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Agenesis of nerve	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital fistula of auricle	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital stricture of osseous meatus of middle ear	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Hydromyelia	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital malformation of the eyebrow	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Totally absent pericardium	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital malformation of tongue, mouth and pharynx	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some
Congenital urethrovaginal fistula (disorder)	est un(e) (attribut)	False	Congenital malformation	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
3006530018	Fetal developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006540015	Foetal developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006559018	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006590016	Congenital abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3011594016	Foetal malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
412903018	Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
412904012	Fetal malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
412905013	CM - Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
669595015	Congenital malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
704471000077113	malformation congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
81891000077110	malformation congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)