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
känd eller misstänkt spina bifida med myelomeningocele hos fostret som påverkar den obstetriska vården	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
4q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Functional asplenia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of integument	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital absence of skeletal muscle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Turner syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
XXXXY syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of spinal meninges	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thyroglossal duct cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of neck	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Spina bifida without hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital absence of coronary sinus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
12q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Disseminated superficial actinic porokeratosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of endocrine gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
18p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
18q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital atresia of osseous meatus of middle ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Penta X syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
11q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of inner ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
9q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Radiation chimera	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of organ of Corti	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt trisomi 16q-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
atelomyeli	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomaly of chromosome pair 8	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kongenital hypomyelinogenes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
11q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
10p partial trisomy syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
diastematomyeli	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomaly of chromosome pair 9	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Double Y syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital atresia of aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
17p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Akabane virus disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Fetal myelomeningocele causing disproportion (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Complete trisomy 20 syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Encephalocystocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
13p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
2p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
18p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical thyroid remnant	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 5	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spinal cord dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spina bifida aperta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spina bifida aperta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Anomaly of chromosome pair 18	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Klippel-Trenaunay-Webers syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
2q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Branchial cleft cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
10p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital anomaly of adrenal gland (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of aortic arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Anomaly of chromosome pair 11 (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Heterologous chimera	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fragile X syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rachischisis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Rachischisis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Homologous chimera	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Familial arthrogryposis-cholestatic hepatorenal syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
partiellt monosomi 9p-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
partiellt monosomi 15q-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Williams syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Alstrom syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Triploidy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalous pulmonary venous drainage to superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
18q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
missbildat foster med sirenomyeli	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Spina bifida	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of membranous labyrinth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Partial anomalous pulmonary venous connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Complete trisomy 8 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rothmund-Thomson syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomaly of chromosome pair 21	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
5p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt trisomi 15q-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Occult spinal dysraphism sequence	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Meningomyelocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Complete trisomy 22 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bicuspid aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Polyploidy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
10q partial trisomy syndrome	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)