60115006: Congenital malposition (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit fejlstilling	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit fejlstilling	Is a	Malposition	false	Inferred relationship	Some
kongenit fejlstilling	Is a	Malposition (morphologic abnormality)	false	Inferred relationship	Some
kongenit fejlstilling	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malposition of radius	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of palate rugae	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of liver	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of trachea	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Inferior vena cava to left of spine	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of pubis	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of nasal turbinate	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of pinna	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of sacral vertebra	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of lumbar vertebra	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of testis	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of vas deferens (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Lungs in mirror image arrangement (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of ulna	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of pulmonary artery	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Anomalous insertion of right superior vena cava to left atrium	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of nose	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Inferior cava to left of spine with right descending aorta	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of ilium	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Retroesophageal pulmonary artery	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Congenital malposition of rib	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of superior vena cava	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of thoracic vertebra	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of the thyroid gland	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of ischium	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of ovary	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital malposition of thymus	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Spacing of anterior mandibular teeth	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Excessive spacing of fully erupted teeth	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital displacement of punctum lacrimale	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	4
Congenital floating liver	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Ebstein's anomaly	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Ebstein's anomaly with functional tricuspid stenosis (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Congenital malposition of tarsal bone	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Congenital downward displacement of stomach	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Congenital displacement of stomach	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Ebstein's anomaly with atrial septal defect	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	5
glandulær hypospadi	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Glanular hypospadias	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Coronal hypospadias	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital displacement of punctum lacrimale	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Ebstein's anomaly	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Congenital floating liver	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Penile hypospadias (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Perineal hypospadias (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Hypospadias (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Isolation of right subclavian artery (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Ebstein's anomaly with functional tricuspid stenosis (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Malattachment of atrial septum (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Crowding of posterior maxillary teeth (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Crowding of posterior mandibular teeth (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Ebstein's anomaly with atrial septal defect	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Isolation of left subclavian artery (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Familial hypospadias of penis (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	8
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	5
Congenital ectropion	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	6
Epispadias repair	Direct morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Repair of epispadias using double faced onlay patch	Direct morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Posteriorly rotated ear	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Misplaced ear	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	6
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Repair of epispadias urethroplasty using glanular flap	Direct morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Repair of hypospadias urethroplasty using glanular flap	Direct morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Crowding of anterior mandibular teeth	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
glandulær hypospadi	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Inferior vena cava connecting to morphological left atrium	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Malattachment of atrial septum with posterior aspect of septum primum to left (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Female hypospadias (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Crowding of anterior maxillary teeth (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Malattachment of atrial septum with superior aspect of septum primum to left and posterior (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Coronal hypospadias	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Glanular hypospadias	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Congenital torsion of ovary	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Opitz-Frias syndrome	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	3
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	5
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Iniencephaly (disorder)	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	1
Iniencephaly - open	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2
Iniencephaly - closed	Associated morphology	False	kongenit fejlstilling	Inferred relationship	Some	2

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
99865018	Congenital malposition	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
99868016	Situs perversus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
99869012	Congenital abnormal position	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
799032017	Congenital malposition (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3029991000005112	kongenit fejlstilling	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)