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
Pili annulati	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uterus bilocularis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Repair of cleft hand (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Goltz syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital pes planus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Metatarsus adductus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital dislocation of shoulder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Imperfect fusion of skull	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Mutilating keratoderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Townes syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Potter's facies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of sternocleidomastoid muscle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
sammanväxning av kalkaneus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
longitudinell dysmeli i fotfalanger	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
longitudinell dysmeli i fotfalanger	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Uterus parvicollis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
HSMN IV	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Primordial cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, group C (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Repair of macrodactyly	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Senter syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Uterus incudiformis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cutis marmorata	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital deformity of hip joint	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of hepatic duct without obstruction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Acquired epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Pyloric atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital deformity of ankle joint	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mesenteric cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Inherited arthrogryposis	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of coronary artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Keratosis palmaris et plantaris	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Trigonocephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Camptodactyly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Glycogen storage disease, type VI	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Craniolacunia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Notomelus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pemberton osteotomy operation of ilium	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Longitudinal deficiency of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital adhesions of peritoneum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Paraumbilical hernia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Mibellis porokeratos, ytlig disseminerad typ	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of bile duct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital choledochal cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ruvalcaba syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ectodermal dysplasia-ocular malformation syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Bicornuate uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Congenital anomaly of lower alimentary tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of face bones	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital fiber type disproportion myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Floppy infant syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Talipes equinovarus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Anorectal anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Radioulnar synostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Marshall syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
adult junktional epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital coxa valga	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of the hand	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dimelia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Zebra body myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
medfödd missbildning i övre matspjälkningsorgan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hanhart's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nager syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal communication between pericardial sac and pleura	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Infantile uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nevus comedonicus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of nail	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fibrous skin tumor of tuberous sclerosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, group G	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calculus of bile duct with cholecystitis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transverse deficiency of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
letal glossofaryngeal defekt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hepatomphalocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	5
känd eller misstänkt spina bifida med myelomeningocele hos fostret som påverkar den obstetriska vården	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital uterine anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Periodontal cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Functional asplenia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Oculodentodigital syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Congenital anomaly of ovary	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uterus arcuatus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Congenital anomaly of appendix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Scapulopexy	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Tricho-dento-osseous syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Brachyphalangia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
epidermolysis bullosa simplex på händer och fötter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Subungual fibroma	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Redundant prepuce	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital depression in skull	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
makrokolon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mietens syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Annular pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

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Reference Sets

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)