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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Paramedian facial cleft - Tessier cleft 3	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Male with sex chromosome mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Unspecified spina bifida with hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Female infertility due to structural congenital anomaly of vagina (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital corneal malformations	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Encephalocele of orbit	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Midline facial cleft - Tessier cleft 30	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
myopathie à corps zébrés (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Thoracic spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital sacrococcygeal anomalies NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Keratitis ichthyosis and deafness syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
malformation anorectale basse	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anterior segment anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
14q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Pigmented xerodermoid	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Biliary anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Undergrowth of whole hand	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XXXY syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
[X]Other congenital malformations of iris	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sinus of Valsalva abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hydromyelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hirschsprung's disease and allied congenital conditions	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Arrhythmogenic right ventricular dysplasia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Café-au-lait macules with temporal dysrhythmia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Xeroderma pigmentosum, group G	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital sacrococcygeal anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Irido-trabecular dysgenesis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dentinogenesis imperfecta	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fissure of tongue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomalies of posterior segment NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Unspecified liver and biliary system anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Carpal synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bile duct anomaly, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Right ventricular outflow tract abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other upper limb and shoulder anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomaly of larynx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Punctate palmoplantar keratoderma (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis hystrix of Curth-Macklin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormal dermatoglyphic pattern	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persisting fifth aortic arch	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital tracheocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal fusion of tympanic anulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Overgrowth of whole upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 6	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fragile X syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of eyelid	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 7	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pancreas divisum - incomplete (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of vagina (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chromosomal alterations of group B	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Left ventricular outflow tract abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Microdontia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bullous ichthyosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sectorial hypoplasia of optic disc	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital ball and socket ankle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Paired teeth microdontia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Familial multiple café-au-lait macules without neurofibromatosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Amyelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Primary endocardial fibroelastosis of left ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acrosyndactyly of upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital cleft larynx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Sex chromosome abnormality, male phenotype, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Rotational orbital dystopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Isologous chimera	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital overgrowth of distal lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atelencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persistent fetal uterus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Odontogenesis imperfecta	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Optic disc vascular anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida aperta of lumbar spine (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Syringomyelia or syringobulbia NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hearing disorder	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 1	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Correction of camptodactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Tetralogy of Fallot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cyanotic congenital heart disease NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified cerebrovascular anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Idiopathic congenital megacolon	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Total colonic aganglionosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormal fusion of supraoccipital bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Dilatation of tricuspid annulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Reconstruction of toe for macrodactyly with bone resection	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Correction of congenital deformity	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital overgrowth of partial lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Overgrowth of partial upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Reduction deformities of brain NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Zachary operation for obstetric palsy (procedure)	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
[X]Congenital malformations of the circulatory system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other operations for clubfoot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
14q partial distal trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Unspecified congenital anomalies of hair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital blind loop syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 8	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Branchial cleft	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dumbbell ossification of centrum of thoracic vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Esophageal atresia, stenosis or fistula NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of cardiac chambers and connections	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core