107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
anomalie congénitale	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
anomalie congénitale	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
13q partial monosomy syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Shwachman syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Turner syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of thoracic aorta and pulmonary arteries	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cyst of mediastinum	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypoplasia of pancreas (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bonnevie-Ullrich syndrome NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of peripheral nerve	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aortic tunnel	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other intestine anomalies NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cryptotia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelvic osteotomy for congenital deformity of hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Shelf procedure for congenital dislocation of the hip (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Medullary cystic disease, otherwise specified	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Down's syndrome NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Femoral osteotomy for correction of congenital deformity of hip (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of congenital deformity of lower limb (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Edward's syndrome NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Excision of anlage of fibula	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Patau's syndrome NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Turner's phenotype - ring chromosome karyotype	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Excision of anlage of tibia	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aganglionosis of Auerbach's plexus (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Renal pelvis and ureter obstructive defects (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prominent valve of inferior vena cava	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other pharynx anomalies	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other specified anomalies of diaphragm	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Preauricular fistula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fibrolipoma of filum terminale (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Discordant ventriculoarterial connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other anomalies of intestine	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Talipes calcaneovarus (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trisomy 13, meiotic nondisjunction	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Pancreas divisum - complete (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trisomy 18 - meiotic nondisjunction (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoplasia of cardiac vein	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trisomy 21- meiotic nondisjunction	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Correction of congenital deformity of hip NOS	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomalies of pancreas NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Other specified anomalies of pancreas	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aortic root congenital abnormality	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
10p partial monosomy syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Persistent cerebral embryonic artery	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of aortic arch	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ash leaf spot, tuberous sclerosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of fallopian tubes	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital vascular disorder	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Turner's phenotype, other variant karyotypes	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Cobb's syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of skeletal muscle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pleuropericardial cyst	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cervical thymic remnant (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Kommerell's diverticulum	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bregeat's syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pancreatic trypsin deficiency (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Complete trisomy 18 syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Café-au-lait spots and ring chromosome 11	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Primary seborrhea	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dextraposition of aorta in Fallot's tetralogy	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Anomalies of upper alimentary tract NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
9p partial monosomy syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Triple pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other specified correction of congenital deformity of hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Localized abdominal wall skin atrophy	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinal dysgenesis (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
1q partial monosomy (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Pancreas divisum	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary artery anomaly, unspecified	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hereditary endothelial dystrophy	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of blood vessel of upper limb (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Exstrophy of cloaca sequence	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Correction of congenital deformity of hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
13q partial trisomy syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaicism 45, X; 46, XX	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Double outlet left ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other specified upper alimentary tract anomaly	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pancreas divisum - incomplete (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ovarian dwarfism NEC	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Dextrotransposition of aorta	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ring chromosome 11 syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Preauricular sinus and fistula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
11q partial monosomy syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Obstructive defect of renal pelvis or ureter NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 1 syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Turner's syndrome NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
10q partial monosomy (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Trisomy 13 - mitotic nondisjunction mosaicism (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Unspecified anomaly of heart valve	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of pancreas (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trisomy 21- mitotic nondisjunction mosaicism	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
dysgénésie de la queue de cheval	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Preauricular sinus, pit or fistula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cyclops hypognathus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epstein's pearl of palate (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Preauricular sinus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Opocephalus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Leydig cell agenesis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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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
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module