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
Congenital hypoplasia of nasal turbinate	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Incomplete ossification of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital clubbing	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, male phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myelocystocele NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplastic chondrodystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital stenosis of vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ectopic gastric mucosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fetal trimethadione syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of talus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
méningocèle cérébrale congénitale (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Sex chromosome anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of nose	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other deletions from the autosomes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary follicular keratoses	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Dyke-Davidoff-Masson syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Rudimentary digit (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other sex chromosome abnormality NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Persistent hyaloid artery	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
5p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Atrioventricular septal defect - isolated ventricular component	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Beaded hair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Alstrom syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Obstructive heart anomaly NEC NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sagittal craniosynostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of ischium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Schizencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital overgrowth of whole lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital deformity of midfoot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of minor congenital deformity of foot NOS	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Multiple congenital cerebral cysts	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Truncal valve regurgitation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomaly of unspecified limb NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital stenosis of larynx or trachea NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Subpulmonary infundibulum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital musculoskeletal anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fold and cyst of posterior segment of eye (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Discordant atrioventricular connection	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spinobulbar atrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aortic arch anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of centrum of thoracic vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Partial absence of alimentary tract NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of basisphenoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of bladder and urethra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Solid rudimentary uterus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of thyroglossal duct NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypospadias or epispadias NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Non-fluoride enamel opacities (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Middle ear anomaly, excluding ossicles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acrania	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of ilium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Group chromosomal alteration	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of upper respiratory system (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Isolation of brachiocephalic trunk	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of uterus, affecting pregnancy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of digestive tract	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Deventer's pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified circulatory system anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
46, XX true hermaphrodite	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Capitate-hamate synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital rhabdomyoma of heart	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
polyneuropathie syphilitique congénitale tardive	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of vagina	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of eyelid	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
bloc cardiaque congénital (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital buried penis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ear osseous meatus atresia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anosmia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormal lung lobation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cervical spina bifida with hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Dentin dysplasia, type I	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of tarsal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified digestive system anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ebstein's anomaly with atrial septal defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital myopathy with uniform fiber type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Extra marker chromosomes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Biliary malformation associated with renal tubular insufficiency	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital mesocolic hernia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Laminar heterotopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis hystrix	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thumb in palm deformity	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of vulva	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Additional chromosome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
aplasie cérébelleuse	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Epoophoron	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of lacrimal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Port-wine stain associated with spinal dysraphism (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other nervous system congenital anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital trigger thumb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chromosomal alterations of group A	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Anomaly of chromosome pair 11	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
[X]Other congenital malformations of vagina	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
variant du xeroderma pigmentosum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital anomalies of pelvis NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital undergrowth of foot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

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
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