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
10q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Coarctation of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Accessory adrenal cortex	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hemimyelia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
5p partial trisomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of pituitary gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Partial tetrasomy of chromosome 9 (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital chromosomal disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete trisomy 9 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XX males	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
hydroraki	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomaly of chromosome pair 1	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Amyelencephalus (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
pleonoti	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
14q partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
19q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of ossicles of ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sotos' syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Septo-optic dysplasia sequence	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
6q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida occulta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida occulta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Amyoplasia congenita disruptive sequence	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Spina bifida of lumbar region	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Complete trisomy 16 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
3p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
9p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt trisomi 8p-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Double aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
komplett trisomi 10-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XXXY syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete monosomy 21 (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Amyelia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
partiellt trisomi 1q-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
känd eller misstänkt hydrocefalus hos fostret som påverkar den obstetriska vården	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of spinal cord (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
7q partial monosomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome Y	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
hydromeningomyelocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ring chromosome 4 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XY females	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
7p partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Caudal regression syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kongenital hypoplasi av underkäken	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
6p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd anomali i öra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kondrodystrofisk malaci	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Congenital accessory skin tag	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomaly of chromosome pair 4	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 10 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of head	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
hyperplastisk kondrodystrofi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ring chromosome 18 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt trisomi 16p-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of nervous system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
4q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Prader-Willi syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Persistent lanugo	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
3q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital absence of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital absence of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital absence of mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital absence of tympanic anulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
ansiktsspalt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cleft mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal fusion of mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal fusion of tympanic anulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal shape of aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal shape of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal shape of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital abnormal shape of mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal shape of spleen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal shape of tympanic anulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital absence of aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital bent hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital bent hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital absence of spleen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital cyst of spleen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypertrophy of aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital exophthalmos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital fenestration of premaxilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypoplasia of aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypoplasia of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital hypoplasia of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypoplasia of premaxilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypoplasia of spleen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypoplasia of tympanic anulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Holorachischisis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Holorachischisis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Incomplete ossification of tympanic anulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of auditory ossicles	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of sex chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital blindness	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital displacement of punctum lacrimale	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital strabismus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital flaccid paralysis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hearing disorder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

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Reference Sets

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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)