107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core

593259012 Congenital anomaly (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 anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Some
Congenital anomaly	Is a	Developmental abnormality	false	Inferred relationship	Some

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

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Reference Sets

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Concept inactivation indicator reference set

Description inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym	Active	Case insensitive	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core