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
Other specified conditions due to autosomal anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified conditions due to autosomal anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Turner's phenotype, other variant karyotypes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Turner's syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified sex chromosome anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital CNS anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital arthrogryposis due to teratogen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Translocation Down syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital syringomyelia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ectopic gastric mucosa - multiple sites (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chiari malformation type II (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pallister-Killians syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital fibrosis syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital fibrosis of inferior rectus muscle (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
dysplasi av storhjärnsbarken	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Port-wine stain associated with spinal dysraphism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
café-au-lait-fläckar och ringkromosom 11	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Autosomal chromosomal disorder (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XXYY syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Poly Y syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hereditary neurocutaneous angiomata (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hereditary neurocutaneous angiomata (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus of late onset	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Spina bifida with hydrocephalus of late onset	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Sturge-Weber syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sturge-Weber syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Axenfeld anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Axenfeld anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of uvula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of uvula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Levoatrial cardinal vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Levoatrial cardinal vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Micropapilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Micropapilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Specified optic disc anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Specified optic disc anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital epicardial cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital epicardial cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Absence of superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absence of superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital fissure of epiglottis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital fissure of epiglottis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital uterovesical fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital uterovesical fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Epispadias, female	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epispadias, female	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Reduction of gigantism of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Reduction of gigantism of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Release of syndactyly of toes	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Release of syndactyly of toes	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Amputation of supernumerary toe	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Amputation of supernumerary toe	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Correction of congenital crossed toes	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of congenital crossed toes	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Reduction of macrodactyly of toe	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Reduction of macrodactyly of toe	Direct morphology	False	kongenital anomali	Inferred relationship	Some	3
Failure of differentiation of bones of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Failure of differentiation of bones of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital synostosis of lower limb bones (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital synostosis of lower limb bones (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of lower limb bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of lower limb bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
medfödd underutveckling av nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd underutveckling av nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
medfödd underutveckling av hela nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd underutveckling av hela nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Constriction ring syndrome of lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Constriction ring syndrome of lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
konstriktionsring på ben	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
konstriktionsring på ben	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Constriction ring of lower limb with lymphedema	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Constriction ring of lower limb with lymphedema	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Abnormal palmar creases	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal palmar creases	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Pachydermoperiostosis of nail	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pachydermoperiostosis of nail	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anterior perimaxillary faciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anterior perimaxillary faciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Complete perimaxillary faciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete perimaxillary faciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Posterior perimaxillary faciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Posterior perimaxillary faciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ichthyosis congenita with biliary atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis congenita with biliary atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
keratosis pilaris med iktyos och dövhet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
keratosis pilaris med iktyos och dövhet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4

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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)