112635002: Congenital malformation (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Other congenital anomaly of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Percutaneous transluminal ablation of congenital heart malformation	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomalies of pancreas NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of pancreas (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectopic pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectopic pancreatic tissue in stomach (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital malformation of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Annular pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital vascular malformation of orbit	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital vascular malformation of lip (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hydatid cyst of Morgagni - female	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other specified anomalies of pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
[X]Other congenital malformations of pancreas and pancreatic duct	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
[X]Congenital malformations of genital organs	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Miller syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Midline sinus of the upper lip	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Stickler syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lip pits	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of sphenoid wing	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Kundrat's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Duplication of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Patent vitelline duct (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
[X]Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain associated with spinal dysraphism (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
[X]Other specified congenital malformations of female genitalia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rehbein procedure	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Commissural lip pits	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oto-palato-digital syndrome, type II	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Perodactylia of lesser toe	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Capillary malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other specified genital organ anomaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
[X]Other specified hypospadias	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary vascular fragility (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation syndromes involving limbs	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of anterior abdominal wall (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dubowitz's syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other congenital anomaly of vas deferens or prostate	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of lens shape	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genital organ absence NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary mucoepithelial dysplasia (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
[X]Other specified congenital malformations of male genital organs	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Other congenital malformations of testis and scrotum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Unspecified anomalies of mouth and pharynx	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intersex NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Accessory sternebral ossification site	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
[X]Other congenital malformations of uterus and cervix	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Isolation of common carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain with associated anomalies (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of salivary duct	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Decompression of imperforate anus	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistence of primitive artery (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Other specified genital organ anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain with oculocutaneous melanosis (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oral-facial-digital syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistent urogenital sinus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Wolffian duct cyst - female	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Semi-lobar holoprosencephaly (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Orofacial-digital syndrome IV	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oto-palato-digital syndrome, type I	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of sternum (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other mouth and pharynx anomalies NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Wolffian duct cyst - male	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
kyste causé par un reliquat embryonnaire chez l'homme	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation syndrome involving limbs NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation syndromes with other skeletal changes	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Female pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aberrant retro-oesophageal brachiocephalic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Freemartin	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital aplasia of genital organ NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Borjeson-Forssman-Lehmann syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculodentodigital syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation syndrome with other skeletal changes NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital umbilical defect	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Other congenital anomalies of sternum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation syndrome affecting facial appearance NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesonephric cyst	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Exstrophy of urinary bladder NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Cyst of Wolffian duct (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Abdominosacroperineal pull-through	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hydatid cyst of Morgagni - female	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cyst of hydatid of Morgagni	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Angioma serpiginosum (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Posterior segment vascular anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hydatid cyst of Morgagni - male	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Posterior sagittal anorectoplasty (procedure)	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Orofacial-digital syndrome III	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monster with cranial anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other anomalies of salivary glands or ducts	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Malformation of tooth	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Specific mixed vascular syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Indeterminate sex or pseudohermaphroditism NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of genital organ NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cyst of embryonic remnant NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Byzanthine arch palate	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital vascular malformation of orbit	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hanhart's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set

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Id	Description	Lang	Type	Status	Case?	Module
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core