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
anomalie congénitale	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
anomalie congénitale	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Single congenital anomaly (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
PHACE syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
syndrome de malformations de la fosse postérieure, hémangiomes capillaires, anomalies de l'anatomie des artères cérébrales, coarctation de l'aorte et autres malformations cardiaques, anomalies oculaires et anomalies sternales	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tibial muscular dystrophy	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetrasomy 18p	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Patent vitelline duct (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tubule of paroophoron	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epoophoron	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vitelline duct polyp (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mitral valve dysplasia	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Developmental anomaly of vitelline duct	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tubule of epoophoron	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Duct of epoophoron	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Paroophoron	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mitral leaflet dysplasia	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thyroglossal duct sinus (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrosyndactyly of toe	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prominent renal pelvis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital prelingual deafness	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
15q13.3 microdeletion	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	6
1q21.1 microdeletion syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
1p36 deletion syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome 16p11.2 deletion syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
15q24 microdeletion	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Weissenbacher-Zweymuller syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Weissenbacher-Zweymuller syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Weissenbacher-Zweymuller syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	7
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Agenesis of enamel	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Incisor that has marked lateral borders occurring lingually.	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Incomplete ossification of clavicle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypoplasia of clavicle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pseudoarthrosis of clavicle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital abnormal shape of clavicle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital bent clavicle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital thickening of clavicle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleidocranial dysostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Lack of ossification of clavicle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital deformity of clavicle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinal dysgenesis (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Straight back syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of spine	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital spondylolisthesis of cervical vertebra (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
deformità congenita della colonna vertebrale	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Excessive dental arch length (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Transitional vertebra (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital spondylolisthesis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of spine	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atlanto-occipital malformation	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypoplasia of spine	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital spondylolysis of lumbosacral region	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital deformity of sacroiliac joint	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital double lip	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Subependymal nodular heterotopia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Duane-radial ray syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Congenital anomaly of vertebral region of back (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hooded penis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital gingival granular cell tumor (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Gingival cyst of neonate (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital epulis of newborn	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Oral lymphangioma (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Bilateral complete and incomplete cleft lip	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Incomplete bilateral cleft lip	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microstomia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital ranula (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Orofacial cleft	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft lip	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft lip sequence (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of oral cavity	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral cleft lip	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital phimosis (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Redundant prepuce (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Short preputial frenulum (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Central cleft lip	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Complete bilateral cleft lip (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Asymmetric maxillary arch (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Asymmetric mandibular arch form	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Correction of syndactyly with skin flap	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Correction of syndactyly with skin flap and graft	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Mosaic variegated aneuploidy syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis of upper eyelid	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital blepharophimosis of lower eyelid	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glanular hypospadias	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Coronal hypospadias	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital hydrosalpinx	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Persistent omphalomesenteric artery (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Epoophoron cyst	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Repair of persistent cloaca with lengthening of vagina (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Paratubal cyst arising in mesonephric duct	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Repair of persistent cloaca by sacroperineal approach	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Repair of persistent cloaca by abdominal and sacroperineal approach	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Preauricular sinus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Complex craniosynostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Simple craniosynostosis (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	6

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set

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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
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module