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
Other specified conditions due to autosomal anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Unspecified conditions due to autosomal anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Turner's phenotype, other variant karyotypes	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Turner's syndrome NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified sex chromosome anomaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital CNS anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital arthrogryposis caused by teratogen (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Translocation Down syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital syringomyelia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Ectopic gastric mucosa - multiple sites (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Chiari malformation type II (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pallister-Killian syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital fibrosis syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital fibrosis of inferior rectus muscle (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Dysplasia of cerebral cortex	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Port-wine stain associated with spinal dysraphism (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
syndroom van café-au-laitvlekken en ringchromosoom 11	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Autosomal chromosomal disorder (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
XXYY syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Poly Y syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hereditary neurocutaneous angiomata (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Hereditary neurocutaneous angiomata (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida with hydrocephalus of late onset	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spina bifida with hydrocephalus of late onset	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Sturge-Weber syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sturge-Weber syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Axenfeld anomaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Axenfeld anomaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of uvula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of uvula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Levoatrial cardinal vein	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Levoatrial cardinal vein	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Micropapilla	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Micropapilla	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Specified optic disc anomaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Specified optic disc anomaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital epicardial cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital epicardial cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Absence of superior vena cava	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Absence of superior vena cava	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital fissure of epiglottis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital fissure of epiglottis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital uterovesical fistula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital uterovesical fistula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Female epispadias (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Female epispadias (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Reduction of gigantism of foot	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Reduction of gigantism of foot	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Release of syndactyly of toes	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Release of syndactyly of toes	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Amputation of supernumerary toe	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Amputation of supernumerary toe	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Correction of congenital crossed toes	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Correction of congenital crossed toes	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Reduction of macrodactyly of toe	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Reduction of macrodactyly of toe	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Failure of differentiation of bones of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Failure of differentiation of bones of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital synostosis of lower limb bones (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital synostosis of lower limb bones (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Duplication of lower limb bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duplication of lower limb bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital undergrowth of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital undergrowth of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital undergrowth of whole of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital undergrowth of whole of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Constriction ring syndrome of lower limb (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Constriction ring syndrome of lower limb (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Constriction ring of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Constriction ring of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Constriction ring of lower limb with lymphedema	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Constriction ring of lower limb with lymphedema	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Abnormal palmar creases	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Abnormal palmar creases	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Pachydermoperiostosis of nail	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pachydermoperiostosis of nail	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Anterior perimaxillary faciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anterior perimaxillary faciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Complete perimaxillary faciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Complete perimaxillary faciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Posterior perimaxillary faciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Posterior perimaxillary faciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Ichthyosis congenita with biliary atresia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Ichthyosis congenita with biliary atresia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Keratosis pilaris with ichthyosis and deafness	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Keratosis pilaris with ichthyosis and deafness	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4

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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)