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

27811000052119 kongenital anomali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital anomali	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
kongenital anomali	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Annular pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mongolian spot	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Supernumerary tooth (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd avsaknad av underarm med hand och fingrar	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
pseudokryptorkism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hepatomegaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Nevus anemicus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Langer-Giedion syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormality of uterus, affecting pregnancy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital esophagobronchial fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Macrodactyly of toe (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Uterus acollis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Disseminated superficial actinic porokeratosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Glycogen storage disease type VIII	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of genital organ	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Paraumbilical hernia with gangrene AND obstruction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	9
Congenital varus deformity of foot	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Cochleate uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Eruption cyst of jaw (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Xeroderma pigmentosum, group F	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Islet cell hyperplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Central core disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Sarcotubular myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
progressiv recessiv dystrofisk epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Brachydactyly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of bile duct with acute cholecystitis with obstruction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of male genital system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cholesterol monooxygenase (side-chain cleaving) deficiency	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dubin-Johnson syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
keratoderma punctata	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Moynahans syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital cardiospasm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ruvalcaba-Myhres syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Reconstruction of toe for macrodactyly with bone resection	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Calculus of bile duct with obstruction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Female infertility due to structural congenital anomaly of vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Severe X-linked myotubular myopathy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kongenital anomali i pankreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital duplication of gallbladder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hiatus hernia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital anomaly of bile ducts	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital leukonychia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd förkortning av nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Naso-palatine duct cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acrocephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Meckel's diverticulitis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Closure of cleft hand	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
metatarsus varus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nevus of Ito	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Darier disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
17 alpha-Hydroxyprogesterone aldolase deficiency	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Umbilical hernia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Angioma serpiginosum	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of gallbladder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of common bile duct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
FG syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital organoaxial volvulus of stomach	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Removal of supernumerary toe	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of skull	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Akabane virus disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Universal mesentery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Linear sebaceous nevus sequence	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Fetal myelomeningocele causing disproportion (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital anomaly of vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital gastric perforation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Vascular compression of esophagus by aberrant artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Brunner's gland adenoma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Peutz-Jeghers polyps of small bowel	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Uterus subseptus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pigmented hairy epidermal nevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Oto-palato-digital syndrome, type I	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Ichthyosis linearis circumflexa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Peutz-Jeghers syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Pancreas divisum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uterus biforis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Straight back syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Multi-core congenital myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of small intestine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Reconstruction of cleft foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Anomalous origin of left circumflex artery from right coronary artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of testis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Complete phocomelia of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, group E	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Facioscapulohumeral muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Leydig cell agenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd förkortning av arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fibrous hamartoma of infancy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Nevus lipomatosus cutaneous superficialis	Associated morphology	False	kongenital anomali	Inferred relationship	Some

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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
27811000052119	kongenital anomali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)