105988009: Malformation association (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

170407016 Malformation association en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

576983011 Malformation association (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Malformation association	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Malformation association	Occurrence	Congenital	false	Inferred relationship	Some
Malformation association	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Malformation association	Occurrence	Congenital	false	Inferred relationship	Some	1
Malformation association	Is a	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Malformation association	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Malformation association	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Malformation association	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
VATER association	Is a	False	Malformation association	Inferred relationship	Some
MVRCS association	Is a	False	Malformation association	Inferred relationship	Some
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).	Is a	False	Malformation association	Inferred relationship	Some
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	Is a	False	Malformation association	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)