61295008: Congenital abnormal number (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

101850015 Congenital abnormal number en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

800341012 Congenital abnormal number (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4504341000005113 Kongenit abnormt antal da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kongenit abnormt antal	Is a	kongenit vækstændring	false	Inferred relationship	Some
Kongenit abnormt antal	Is a	Growth alteration	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypodontia and nail dysgenesis	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	6
Unicommissural unicuspid aortic valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Anterior-posterior orientation of bicuspid pulmonary valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Acommissural unicuspid pulmonary valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Abnormal number of pulmonary valve cusps	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Unicommissural unicuspid pulmonary valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Right-left orientation of bicuspid aortic valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Unicuspid aortic valve	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Bicuspid doming of aortic cusp	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Unicuspid pulmonary valve	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Monocuspid cardiac valve	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Bicuspid pulmonary valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Abnormt antal fligklapper	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Abnormal number of cardiac valve cusps (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Acommissural unicuspid aortic valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Bicuspid aortic valve	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Bicuspid cardiac valve	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	3
Quadricuspid aortic valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Quadricuspid pulmonary valve	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Right-left orientation of bicuspid pulmonary valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Anterior-posterior orientation of bicuspid aortic valve (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Abnormal number of aortic valve cusps	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Additional sex chromosome	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Multiple renal arteries	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Kongenit hypodonti, multiple tænder, i relation til systemisk sygdom	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Familial hypodontia	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Hypodontia and nail dysgenesis	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Partial congenital absence of teeth	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Familial hypodontia	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Hypodontia and nail dysgenesis	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Kongenit hypodonti, multiple tænder, uden relation til systemisk sygdom	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Kongenit hypodonti, multiple tænder, i relation til systemisk sygdom	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Kongenit hypodonti, multiple tænder, uden relation til systemisk sygdom	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Bicuspid cardiac valve	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	3
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	5
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	6
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	5
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	7
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Oligomeganephronic hypoplasia of kidney	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Anodontia of permanent dentition	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Anodonti i blivende tænder og primære tænder	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	3
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	3
A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
A rare congenital non-syndromic heart malformation with characteristics of more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Oligodontia is a rare developmental dental anomaly with clinical features that include six or more missing teeth, lack of development of maxillary and mandibular alveolar bone height and reduced lower facial height. Variation in tooth morphology is also observed along with problems in tooth development, eruption and exfoliation. Possible causes of oligodontia include viral disease during pregnancy, genetic predisposition, metabolic imbalances, developmental abnormalities and environmental factors. Autosomal dominant mutations in PAX9 and MSX1 have been found in patients with molar non-syndromic oligodontia.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Single coronary artery dividing into right coronary artery and left coronary artery (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1
Epidermolysis bullosa simplex with hypodontia	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Bicuspid aortic valve-associated aortopathy (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
X-linked hypodontia (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
X-linked oligodontia (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	4
A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Congenital absence of one tooth (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	2
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	5
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	5
Four vessels in umbilical cord (disorder)	Associated morphology	False	Kongenit abnormt antal	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
101850015	Congenital abnormal number	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
800341012	Congenital abnormal number (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4504341000005113	Kongenit abnormt antal	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)