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
Congenital sequestration	Is a	False	Congenital malformation	Inferred relationship	Some
Congenital stenosis	Is a	False	Congenital malformation	Inferred relationship	Some
Supernumerary structure	Is a	False	Congenital malformation	Inferred relationship	Some
Congenital anomaly of uvula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Displacement of Wharton's duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Accessory salivary duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Accessory salivary gland or duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	4
Congenital absence of salivary gland	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Rathke's pouch cyst	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Accessory salivary gland	Associated morphology	False	Congenital malformation	Inferred relationship	Some	4
Congenital fistula of salivary gland	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital salivary gland fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital absence of one tooth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital hypodontia, multiple teeth, unrelated to systemic disease	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Familial hypodontia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Congenital anomaly of uvula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Displacement of Wharton's duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Accessory salivary duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Accessory salivary gland or duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital absence of salivary gland	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Rathke's pouch cyst	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Partial congenital absence of teeth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Accessory salivary gland	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital salivary gland fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital fistula of salivary gland	Associated morphology	False	Congenital malformation	Inferred relationship	Some	6
Coffin-Siris syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Turner's tooth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Osteochondrodysplasia syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Malformation defect spectrum	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Malformation association	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Malformation sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital coronary aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Fragile X chromosome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital malformation syndromes due to known exogenous causes	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital iodine deficiency syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
False anodontia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Anodontia of primary dentition	Associated morphology	False	Congenital malformation	Inferred relationship	Some	4
Anodontia of permanent dentition	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Supernumerary deciduous tooth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Erupted mesiodens	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Impacted mesiodens	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Inverted mesiodens	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Fusion of crown of teeth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	4
Duplication of teeth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Multirooted tooth with divergent roots	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Multirooted tooth with convergent roots	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Lateral accessory root canals	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Amelogenesis imperfecta, hypoplastic type with microdontia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Enamel-renal syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Protrusion of tooth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Laurence-Moon syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Immotile cilia syndrome due to defective radial spokes	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Immotile cilia syndrome due to excessively long cilia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Young's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Rutland ciliary disorientation syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital anomaly of artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Hypoplasia of artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Persistence of primitive artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Cerebral arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Parkes Weber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Truncal arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Diffuse arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Hennekam syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Arteriovenous angioma	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital arteriovenous fistula occlusion	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital arteriovenous fistula stenosis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital arteriovenous fistula thrombosis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital arteriovenous fistula infection	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital arteriovenous fistula aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital arteriovenous fistula haemorrhage	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital arteriovenous fistula rupture	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Arteriovenous-lymphatic malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital renal artery aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Ochoa syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital hypothyroidism without goitre	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital thyroid hypoplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital atrophy of thyroid	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital iodine deficiency syndrome of mixed type	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital iodine deficiency syndrome of neurological type	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Orofacial-digital syndrome III	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Arthrogryposis	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Hutchinson's triad	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
DeSanctis-Cacchione syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Sjögren-Larsson syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Leprechaunism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Neurologic form of cretinism	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Retinal arteriovenous dilatation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Retinal arteriovenous shunt	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Aberrant artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Alobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Semi-lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Sacral dysgenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Some

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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