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:

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

2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit anomali	Is a	Morphologically abnormal structure	false	Inferred relationship	Some
kongenit anomali	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Nevus lipomatosus cutaneous superficialis	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital hypertrichosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Uterus bicornis unicollis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Craniosynostosis syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of spleen	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Hepatic methionine adenosyltransferase deficiency	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Cowden syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital duplication of cervix	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Spina bifida aperta	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Reifensteins syndrom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Distal muscular dystrophy	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of female genital system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital fusion of sacroiliac joint (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Manus plana	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Galdegangssten med akut kolecystit uden obstruktion	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital anomaly of stomach	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Glycogen storage disease, hepatic form	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Calculus of hepatic duct with obstruction	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital esophagotracheal fistula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Ectopic intestinal mucosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital deformity of knee joint	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Jarcho-Levin syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Glycogenosis with glucoaminophosphaturia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital hourglass stomach	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Familial arthrogryposis-cholestatic hepatorenal syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Removal of supernumerary digit	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of vas deferens	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital rectovestibular fistula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Congenital rectovestibular fistula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dewebbing of syndactyly of fingers	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Larsen syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Brachydactyly syndrome type E	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Embryonic fimbrial cyst	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Tsuge operation on finger for macrodactyly repair	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of hair	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of vulva	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of vulva	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Imperforate hymen	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Bayonet hair	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Miller syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital fusion of ribs	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Hyperplasia of pancreatic islet beta cell	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital absence of toe	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of upper limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Popliteal pterygium syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital duplication of esophagus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Pyloric antral atresia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Ectopic pancreas in duodenum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Umbilical hernia with gangrene	Associated morphology	False	kongenit anomali	Inferred relationship	Some	7
Ichthyosis hystrix	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Spina bifida	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Pretibial epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of cartilage	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Blandet kongenit myopati	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Calculus of common bile duct with chronic cholecystitis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Galdegangssten uden obstruktion	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital hypoplasia of pancreas	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, group D	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital keratoderma	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Dewebbing of syndactyly of toes	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Hereditary benign intraepithelial dyskeratosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Rothmund-Thomson syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital anomaly of fixation of intestine	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Sten i ductus choledochus uden obstruktion	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Pancreatic colipase deficiency	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Beaded hair	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of digestive system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of esophagus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital occlusion of anus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital cubitus valgus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of penis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Repair of claw toe	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Occult spinal dysraphism sequence	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Kongenit diskoid menisk	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Meningomyelocele	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of rib	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Omental cyst	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Galdegangssten med kronisk kolecystit uden obstruktion	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of broad ligament	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Sten i ductus choledochus med akut kolecystit uden obstruktion	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulphatase deficiency	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Uterus bicornis bicollis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Glycogen storage disease, type I	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Megaloappendix	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Nevus unius lateris	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital cystic disease of liver	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of germinal epithelium of testes	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of musculoskeletal system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Muskeltransposition mhp. korrektion af klotå	Direct morphology	False	kongenit anomali	Inferred relationship	Some	3

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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
2848101000005119	kongenit anomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)