112635002: Congenital malformation (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym Active Case insensitive SNOMED CT core

642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation	Is a	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Intersex NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Accessory sternebral ossification site	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
[X]Other congenital malformations of uterus and cervix	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Isolation of common carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Port-wine stain with associated anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital abnormality of salivary duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Decompression of imperforate anus	Direct morphology	False	Congenital malformation	Inferred relationship	Some	1
Persistence of primitive artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Other specified genital organ anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Port-wine stain with oculocutaneous melanosis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Persistent urogenital sinus	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Wolffian duct cyst - female	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Semi-lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Oto-palato-digital syndrome, type I	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital anomaly of carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation of sternum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Other mouth and pharynx anomalies NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Wolffian duct cyst - male	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Cyst of embryonic remnant - male	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital malformation syndrome involving limbs NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation syndromes with other skeletal changes	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Female pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Aberrant retro-oesophageal brachiocephalic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Freemartin	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital aplasia of genital organ NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Borjeson-Forssman-Lehmann syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Oculodentodigital syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital malformation syndrome with other skeletal changes NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital umbilical defect	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Other congenital anomalies of sternum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation syndrome affecting facial appearance NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
De Lange syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Mesonephric cyst	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Exstrophy of urinary bladder NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Cyst of Wolffian duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Abdominosacroperineal pull-through	Direct morphology	False	Congenital malformation	Inferred relationship	Some	1
Hydatid cyst of Morgagni - female	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cyst of hydatid of Morgagni	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Angioma serpiginosum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Posterior segment vascular anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Hydatid cyst of Morgagni - male	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Posterior sagittal anorectoplasty	Direct morphology	False	Congenital malformation	Inferred relationship	Some	2
Orofacial-digital syndrome III	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Monster with cranial anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Other anomalies of salivary glands or ducts	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Tooth malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Specific mixed vascular syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Indeterminate sex or pseudohermaphroditism NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Atresia of genital organ NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cyst of embryonic remnant NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Byzanthine arch palate	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital vascular malformation of orbit	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Hanhart's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation of genital organs	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Bipartite ossification of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Hypoplasia of genital organ NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Coffin-Lowry syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Atresia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Reifenstein syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
[X]Other congenital lens malformations	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Other congenital anomaly of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Mixed vascular malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital anomalies of tongue, mouth and pharynx	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Angiokeratoma circumscriptum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital anomaly of endocrine ovary	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Synophrys	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Epicapsular star	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation of the eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital elongation of innominate artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Known OR suspected fetal hydrocephalus affecting obstetrical care	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Posterior chamber vascular anomalies NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Cockayne syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
FG syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Double eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital malformation of anterior pituitary	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation of the urinary system	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Flat palate	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Townes syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital palato-oesophageal incoordination	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Nager syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Jarcho-Levin syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Exstrophy of bladder sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Generalised essential telangiectasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Hypogonadism with prune belly syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cervical, vaginal and external female genital anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Perodactylia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Vascular loops of inner ear	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Port-wine stain in proteus syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Holt-Oram syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Vascular malformation of the nervous system	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Indeterminate sex NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set

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Id	Description	Lang	Type	Status	Case?	Module
183283010	Congenital malformation	en	Synonym	Active	Case insensitive	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core