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
Umbilical hernia with gangrene	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	7
Ichthyosis hystrix	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pretibial epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Pili torti-deafness syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of cartilage	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mixed congenital myopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of common bile duct with chronic cholecystitis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of bile duct without obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypoplasia of pancreas	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Xeroderma pigmentosum, group D	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital keratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Dewebbing of syndactyly of toes	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Hereditary benign intraepithelial dyskeratosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Rothmund-Thomson syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of fixation of intestine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of common duct without obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pancreatic colipase deficiency	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Beaded hair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of digestive system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of esophagus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital occlusion of anus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Erythrokeratodermia variabilis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital cubitus valgus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of penis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Repair of claw toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Occult spinal dysraphism sequence	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital discoid meniscus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Meningomyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of rib	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Omental cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Calculus of bile duct with chronic cholecystitis without obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of broad ligament	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Tuberous sclerosis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of common bile duct with acute cholecystitis without obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Uterus bicornis bicollis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Glycogen storage disease, type I	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Megaloappendix	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nevus unius lateris	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital cystic disease of liver	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital absence of germinal epithelium of testes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of musculoskeletal system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Muscle transfer for claw toe repair	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	3
Disorder of central nervous system due to xeroderma pigmentosum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital cutaneous angiomatosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Perinatal jaundice due to inspissated bile syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Calculus of common bile duct with chronic cholecystitis without obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital scar	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Female infertility due to structural congenital anomaly of cervix	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Diplopodia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pectus excavatum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital coxa vara	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persistent cloaca	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of spine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dyskeratosis congenita	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Nemaline myopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary edema of legs	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pseudohermaphroditism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Umbilical hernia without obstruction AND without gangrene	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Congenital deformity of chest wall	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anoperineal fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Johanson-Blizzard syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Rudimentary tracheal bronchus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital lumbosacral stenosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duchenne muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Junctional epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Oculopharyngeal muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Reduction deformity of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Paraspadias	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atlanto-occipital malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Non-neurologic xeroderma pigmentosum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neurocutaneous syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of trunk	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Stickler syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hallermann-Streiff syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of muscle AND/OR tendon	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital deformity of clavicle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lumbosacral prespondylolisthesis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
pemphigus bénin familial	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital displacement of esophagus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital duplication of liver	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hepatic fibrosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mirror hands	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Porokeratosis of Mibelli	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Uterus bicornuatus vetularum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital spondylolysis of lumbosacral region	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Omphalomesenteric duct cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of common bile duct with acute cholecystitis with obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Diffuse palmoplantar keratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of abdominal wall	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hemimelia of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Opitz-Frias syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Myelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hydrocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myotubular myopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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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