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
muskeltransposition för operation av klotå	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Neurologic xeroderma pigmentosum (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cutaneous angiomatosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Perinatal jaundice due to inspissated bile syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Calculus of common bile duct with chronic cholecystitis without obstruction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital scar	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Female infertility due to structural congenital anomaly of cervix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Diplopodia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pectus excavatum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital coxa vara	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Persistent cloaca	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of spine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dyskeratosis congenita	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Nemaline myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hereditary edema of legs	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
navelbråck utan inklämning och utan gangrän	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Congenital deformity of chest wall	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anoperineal fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa, albopapular type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Johanson-Blizzard syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Rudimentary tracheal bronchus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
medfödd lumbosakral stenos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duchenne muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Junctional epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Oculopharyngeal muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Reduction deformity of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Paraspadias	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atlanto-occipital malformation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Non-neurologic xeroderma pigmentosum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Stickler syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hallermann-Streiff syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of muscle AND/OR tendon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital deformity of clavicle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbosacral prespondylolisthesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Familial benign pemphigus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital displacement of esophagus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital duplication of liver	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hepatic fibrosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
mirror hands	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Porokeratosis of Mibelli	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uterus bicornuatus vetularum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital spondylolysis of lumbosacral region	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Omphalomesenteric duct cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of common bile duct with acute cholecystitis with obstruction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Diffuse palmoplantar keratoderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some
medfödd anomali i bukväggen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
hemimeli i ben	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Opitz-Frias syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Myelocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hydrocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myotubular myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of bile duct with acute cholecystitis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Embryonic cyst of Gartner's duct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Segmental uterine aplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Astragaloscaphoid synostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of prostate	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Repair of macrodactyly of finger	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal dermatoglyphic pattern (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of spermatic cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of breast	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital microgastria	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital melanocytic nevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital volvulus of stomach	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of fallopian tubes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Splayleg in piglets	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uterus bicameratus vetularum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Microhepatia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital diverticulum of colon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of thoracic cage	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ectodermal dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of rectum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hyperplasia of islet alpha cells with glucagon excess	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
förvärvad equinovarusdeformitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Female pseudohermaphroditism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cranial osteoporosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Lateral developmental cyst of jaw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of cervix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of breast	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of liver	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital web of esophagus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of common bile duct with acute cholecystitis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital displacement of stomach	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete aphalangia of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Persistent human tail	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of skeletal muscle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mibellis porokeratos, linjär unilateral typ	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Generalized epidermolysis bullosa simplex	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital diverticulum of stomach	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

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Concept inactivation indicator reference set

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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)