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
Single congenital anomaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Tibial muscular dystrophy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Tetrasomy 18p	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Patent vitelline duct (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Tubule of paroophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Epoophoron (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Vitelline duct polyp (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Mitral valve dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Developmental anomaly of vitelline duct (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Tubule of epoophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Duct of epoophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Paroophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Mitral leaflet dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Thyroglossal duct sinus (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Acrosyndactyly of toe	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Prominent renal pelvis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital prelingual deafness	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
15q13.3 microdeletion	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6
1q21.1 microdeletion	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
15q24 microdeletion	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
22q13.3 deletion syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
22q11.2 duplication syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
heterozygote otospondylomega-epifysaire dysplasie	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
heterozygote otospondylomega-epifysaire dysplasie	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	5
heterozygote otospondylomega-epifysaire dysplasie	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	7
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	7
Oculoskeletal dysplasia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Oculoskeletal dysplasia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Agenesis of enamel	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Shovel-shaped incisor (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Incomplete ossification of clavicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital hypoplasia of clavicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital pseudoarthrosis of clavicle (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital abnormal shape of clavicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital bent clavicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital thickening of clavicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Cleidocranial dysostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	5
Lack of ossification of clavicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital deformity of clavicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spinal dysgenesis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Straight back syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of spine	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital spondylolisthesis of cervical vertebra (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Congenital deformity of spine	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Excessive dental arch length	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Transitional vertebra (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital spondylolisthesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital absence of spine	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Atlanto-occipital malformation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Hypoplasia of spine	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Congenital spondylolysis of lumbosacral region	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Congenital deformity of sacroiliac joint	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital double lip	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Subependymal nodular heterotopia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Duane-radial ray syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6
Congenital anomaly of vertebral region of back	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Hooded penis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital gingival granular cell tumor	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Gingival cyst of neonate (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital epulis of newborn	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Oral lymphangioma	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
bilaterale complete en incomplete cheiloschisis (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Incomplete bilateral cleft lip	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Microstomia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Congenital ranula (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Orofacial cleft (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Cleft lip	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Cleft lip sequence (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital abnormality of oral cavity	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Bilateral cleft lip	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital phimosis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Redundant prepuce	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Short preputial frenulum	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Central cleft lip	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Complete bilateral cleft lip (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Asymmetric maxillary arch	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Asymmetric mandibular arch form	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Correction of syndactyly with skin flap	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Correction of syndactyly with skin flap and graft	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	5
Mosaic variegated aneuploidy syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
congenitale blefarofimose van bovenooglid (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
congenitale blefarofimose van onderooglid (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Glanular hypospadias	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Coronal hypospadias	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Congenital hydrosalpinx	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Persistent omphalomesenteric artery (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Epoophoron cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Repair of persistant cloaca with lengthening of vagina (procedure)	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Paratubal cyst arising in mesonephric duct	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Repair of persistant cloaca by sacroperineal approach (procedure)	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Repair of persistant cloaca by abdominal and sacroperineal approach (procedure)	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Preauricular sinus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Complex craniosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6
Simple craniosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6

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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)