107656002: congenitale anomalie (afwijkende morfologie)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale anomalie (afwijkende morfologie)	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
congenitale anomalie (afwijkende morfologie)	Is a	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
4q partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Functional asplenia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of integument	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital absence of skeletal muscle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Turner syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
XXXXY syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of spinal meninges	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Thyroglossal duct cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of neck	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida without hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Spina bifida without hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital absence of coronary sinus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
12q partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Disseminated superficial actinic porokeratosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of endocrine gland	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
18p partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
18q partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital atresia of osseous meatus of middle ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Penta X syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
11q partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of inner ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
9q partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
chimaera door straling	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of organ of Corti	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
syndroom van partiële trisomie 16q	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Atelomyelia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Ring chromosome 1 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Anomaly of chromosome pair 8	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hypomyelinogenesis congenita	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
11q partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
10p partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
diastematomyelie	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Anomaly of chromosome pair 9	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Double Y syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital atresia of aortic valve	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
17p partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Akabane virus disease	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Fetal disproportion due to fetal myelomeningocele	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Complete trisomy 20 syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Encephalocystocele	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
13p partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
2p partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
18p partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cervical thyroid remnant	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 5	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spinal cord dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spina bifida aperta	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spina bifida aperta	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Anomaly of chromosome pair 18	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
syndroom van Klippel-Trenaunay-Parkes-Weber	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
2q partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Branchial cleft cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
10p partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital anomaly of adrenal gland (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital hypoplasia of aortic arch	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Anomaly of chromosome pair 11 (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Heterologous chimera	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Fragile X syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Rachischisis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Rachischisis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Homologous chimera	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Familial arthrogryposis-cholestatic hepatorenal syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
9p partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
syndroom van partiële monosomie 15q	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Williams syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Alstrom syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Triploidy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomalous pulmonary venous drainage to superior vena cava	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
18q partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sirenoform monster	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spina bifida	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of membranous labyrinth	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Partial anomalous pulmonary venous connection	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Complete trisomy 8 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Rothmund-Thomson syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Anomaly of chromosome pair 21	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
5p partial monosomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
syndroom van partiële trisomie 15q	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Occult spinal dysraphism sequence	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Meningomyelocele	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Complete trisomy 22 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Bicuspid aortic valve	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Polyploidy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
10q partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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
1190181000146119	aangeboren afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1190191000146117	congenitale anomalie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1829111000146118	congenitale anomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)