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
Keratolytic winter erythema	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital stenosis of external auditory canal	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Familial absence of villi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical myelocystocele (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Blunderbuss pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of uterus - baby delivered with postpartum complication	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital atrophy of left lobe of liver (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pyelon triplex	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of middle ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without mention of hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of dental arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Persistent Gartner's duct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Persistent thyroglossal duct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
vissa medfödda missbildningar i muskuloskeletala systemet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of talus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unbalanced translocation and insertion	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of sclera	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt trisomi 8p-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of tympanic anulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital branched rib cartilage (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of spine, not associated with scoliosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformation of aortic and mitral valves unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bicornuate uterus complicating antenatal care, baby not yet delivered	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital contracted pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, group B	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
5p partial trisomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Incomplete ossification of metacarpal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Laryngeal hypoplasia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other failure of differentiation, skeletal tissues of arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital polyp of ureter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cutaneous lesion resulting from spinal dysraphism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified skin anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of bony thorax	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital stricture of osseous meatus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myocardial bridge of coronary artery (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hooded penis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of carpal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital malformation of pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified ear anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital tracheo-oesophageal cleft	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Pulmonary trunk stenosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bipartite ossification of centrum of lumbar vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Retinal dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of upper limb(s), including shoulder girdle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
bipartit benbildning i centrum av svanskota	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Deletion seen only at prometaphase	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Eruption cyst of jaw (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Reduction deformity of upper limb NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformations of the respiratory system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lower trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Diffuse retinal dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
längdförlust hos tandbåge sekundärt till förlust av permanenta tänder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
acefalotorax	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified ichthyosis congenita	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd missbildning av muskuloskeletala systemet, indelning efter lokalisation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other overgrowth of upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Status marmoratus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd fissur i larynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital diverticulum of ureter (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of ribs	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformation of great arteries, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Triplex ureter (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of brain, part unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbosacral agenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other carpal synostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sacral dysgenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of upper trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
DiGeorges syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Camptodactyly-little finger	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital obstructive defect of renal pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital aplasia of round ligament (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Incomplete ossification of metatarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal alterations of group E (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Cervical thyroid remnant	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Micropapilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malposition of carpal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Persistent lanugo	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Fallot's trilogy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other failure of differentiation of soft tissue of arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
genitoperineal rafecysta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of shoulder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mesatipellic pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thyroglossal duct cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of organ of Corti	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other failure of differentiation skeletal tissues of arm NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lymphatic structure of trunk (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sacral spina bifida with hydrocephalus - open (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital thickening of rib	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital stenosis of esophagus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myelocystocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of radius (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital ischemic atrophy of central nervous system structure	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Goltz syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2

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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)