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
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mesonephric cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Wolffian cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Henck-Assman disease	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Uterus cordiformis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of large intestine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of bile duct with chronic cholecystitis with obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome de Coffin-Lowry	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Facial asymmetry	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital pyloric membrane	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital generalized flexion contractures of lower limb joints	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of pelvis and lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Absent pelvis and lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete congenital absence of thigh AND leg	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Paravaginal cyst arising in mesonephric duct	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of leg with foot AND toes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Repair of congenital pseudoarthrosis of tibia	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
pili torti	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
hernie diaphragmatique congénitale	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital subluxation of carpus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Acquired megaduodenum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mohr syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital deformity of sacroiliac joint	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital deformity of sacroiliac joint	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Epispadias	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
H-type congenital tracheo-oesophageal fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Schinzel-Giedion syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Ectopic breast tissue (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ovotestis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
syndrome de Holt-Oram	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neurofibromatosis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Repair of syndactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Congenital syphilitic hepatomegaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Osteopetrosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
calcul du conduit cystique avec cholécystite aiguë	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Occipital dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Porokeratosis of Mibelli, plaque type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Accessory carpal bones	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dominant congenital ichthyosiform erythroderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
cubitus varus congénital	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of finger	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ambiguous genitalia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Double uterus affecting pregnancy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pili annulati	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Uterus bilocularis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Repair of cleft hand	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Goltz syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
pied plat congénital	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Metatarsus adductus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital dislocation of shoulder	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Imperfect fusion of skull	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Distal arthrogryposis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Mutilating keratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Townes syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Potter's facies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of sternocleidomastoid muscle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Coalition of calcaneus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Longitudinal deficiency of phalanges of foot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Longitudinal deficiency of phalanges of foot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Uterus parvicollis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
HSMN IV	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Primordial cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Xeroderma pigmentosum, group C	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
réparation d'une macrodactylie	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Senter syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Uterus incudiformis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
syndrome de Robinson avec dystrophie unguéale et surdité	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cutis marmorata (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
anomalie morphologique congénitale de la hanche	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of hepatic duct without obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Acquired epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Pyloric atresia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital deformity of ankle joint	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cyst of mesentery (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Inherited arthrogryposis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of coronary artery	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratosis palmaris et plantaris	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Trigonocephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Weill-Marchesani syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Camptodactyly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Glycogen storage disease, type VI	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Craniolacunia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Notomelus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pemberton osteotomy operation of ilium	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
anomalie longitudinale d'un os du tarse	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital adhesions of peritoneum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
hernie paraombilicale	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Porokeratosis of Mibelli, superficial disseminated type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
calcul dans un canal biliaire	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital choledochal cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome de Ruvalcaba (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ectodermal dysplasia-ocular malformation syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
utérus bicorne (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Congenital anomaly of lower alimentary tract	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of face bones	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fiber type disproportion myopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some

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POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core