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
Thoracic spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lissencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Single congenital cerebral cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Multiple congenital cerebral cysts	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of Eustachian tube (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital stenosis of eustachian tube	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
preaurikulär sinus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital deformity of spine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Trisomy 21- meiotic nondisjunction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Trisomy 21- mitotic nondisjunction mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Trisomy 13, meiotic nondisjunction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy 13 - mitotic nondisjunction mosaicism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy 18 - meiotic nondisjunction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Monosomy and deletion from autosome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Deletion seen only at prometaphase	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Whole chromosome monosomy - meiotic nondisjunction (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Monosomy 21, mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Major partial trisomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Minor partial trisomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication seen only at prometaphase	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication with other complex rearrangement	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kromosomer med extra markör	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosome inversion in normal individual	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Balanced autosomal rearrangement in abnormal individual	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Balanced sex/autosomal rearrangement in abnormal individual	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Individual with marker heterochromatin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
individ med autosomal fragile site	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Karyotype 46, X iso (Xq)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
mosaikism 45, X/annan cellinje med avvikande könskromosom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chimera 46, XX; 46, XY (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
46, XX true hermaphrodite	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fragile X chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cyst of adrenal gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Carpenters syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
spinobulbär atrofi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ektopisk sköldkörtelvävnad	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypothyroidism with ectopic thyroid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital mandibular asymmetry	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital horizontal mandibular hyperplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital vertical mandibular hyperplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital transverse mandibular hyperplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital alveolar hyperplasia of mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital horizontal mandibular hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital vertical mandibular hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital transverse mandibular hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital alveolar hypoplasia of mandible (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
21q partial distal trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
21q partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital polyneuropathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital neuropathy with arthrogryposis multiplex congenita	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital neuropathy with arthrogryposis multiplex congenita	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Late congenital syphilitic polyneuropathy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
sena sekundära abnormiteter i centrala nervsystemet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Multicystic encephalomalacia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Periventricular leucomalacia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Neuronal choristoma (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
General fibrosis syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Strabismus fixus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Vertical retraction syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital cholesteatoma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Structural anomaly of the cochlea and vestibular labyrinth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete formation of the bony cochlea	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mondini defect (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dilatation of the vestibular aqueduct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dilatation of semicircular canal	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Calcific aortic stenosis - bicuspid valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Vascular neurocutaneous syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Vascular neurocutaneous syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Parkes Weber syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Diffuse arteriovenous fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Arthrogryposis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
8q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
20p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome X	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Total anomalous pulmonary venous return	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Hydromyelia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Morning glory disc	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bicuspid doming of aortic cusp	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Neural tube defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Neural tube defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hemimyelocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Hemimyelocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lipomeningocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lipomeningocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Myelodysplasia of spinal cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myelodysplasia of spinal cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spinal hamartoma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spinal hamartoma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
neuroenterisk cysta och associerad missbildning	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
neuroenterisk cysta och associerad missbildning	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
neuroenterisk cysta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
neuroenterisk cysta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormality of neurogenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Defect of telencephalic division	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absence of septum pellucidum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

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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)