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
Epidermolysis bullosa acquisita, oral mucosal involvement (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Developmental anomaly of vitelline duct (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
X-bunden recessiv iktyos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Punctate palmoplantar keratoderma (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ärftlig epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Fordyce spots of buccal mucosa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital lower lip pits (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hereditary mucoepithelial dysplasia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Patent vitelline duct (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Vitelline duct polyp (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Hypertrichosis with congenital macrogingivae (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Midline cervical cleft (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cutaneous lesion resulting from spinal dysraphism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cutaneous lesion resulting from spina bifida (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rudimentary digit (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Drug-induced epidermolysis bullosa acquisita (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Odonto-onycho-dermal dysplasia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Odontomicronychial ectodermal dysplasia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Lamellar ichthyosis (limited type) (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Flexural Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hypertrophic Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Linear/nevoid/zosteriform Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Acral Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Palmar pitting due to Darier disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Nail dystrophy due to Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nail dystrophy due to benign familial pemphigus (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
keratodermi med dövhet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal dominant familial woolly hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
genetisk avvikelse i hårskaft	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypertrichosis lanuginosa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa inverse type (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epidermolysis bullosa pruriginosa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localized congenital cutis laxa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Axillary freckling due to neurofibromatosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Multiple neurofibromas in neurofibromatosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Plexiform neurofibroma (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Elephantiasis neurofibromatosa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Café-au-lait macules with pulmonary stenosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Café-au-lait macules with temporal dysrhythmia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Familial multiple café-au-lait macules without neurofibromatosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Periungual fibroma in tuberous sclerosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of digit (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
dextroposition av ductus arteriosus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
dextroposition av ductus arteriosus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Cleft palate, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital stenosis of mitral valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Bilateral congenital macrostomia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomalous termination of right pulmonary vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XX	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XX	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
unilateralt kluven hård gom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Opitz-Frias syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other congenital malformations of fallopian tube and broad ligament	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Patent ductus arteriosus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital absence of left pulmonary artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of third eyelid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tricuspid leaflet dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital epiblepharon-inferior oblique syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
bristande nedsjunkning av testikel, ensidig	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other congenital malformations of tricuspid valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of pulmonary artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epiblepharon (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lingual thyroid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lingual thyroid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital tracheo-oesophageal cleft	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other tongue anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other tongue anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital atresia of nares	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Patent ductus arteriosus with left-to-right shunt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Vascular ring, aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Tongue absent	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hooded penis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Constriction ring syndrome of lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cleft hard palate NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Hypertelorism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Mitral papillary muscle abnormality	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Patent ductus arteriosus - delayed closure (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Systemic to pulmonary collateral artery (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Systemic to pulmonary collateral artery (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Systemic to pulmonary collateral artery (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Double orifice of tricuspid valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Accessory tissue on mitral leaflet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bifid epiglottis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital blepharophimosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital blepharophimosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Facial asymmetry	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hypopigmentation of third eyelid	Associated morphology	False	kongenital anomali	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
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)