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1303291008: Abnormal number (morphologic abnormality)

Status: current, 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
5305828016 Abnormal number (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5305829012 Abnormal number en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal number (morphologic abnormality) Is a Growth alteration true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Bicuspid cardiac valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Quadricuspid cardiac valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Monocuspid cardiac valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Single coronary artery Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Abnormal number of cardiac valve cusps (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Oligomeganephronic hypoplasia of kidney Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Uterus unicornis Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Anodontia of permanent dentition (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Familial hypodontia Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Hypodontia and nail dysgenesis Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Bicuspid doming of aortic cusp (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Unicuspid pulmonary valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Bicuspid pulmonary valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Quadricuspid pulmonary valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Unicuspid aortic valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Quadricuspid aortic valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Abnormal number of aortic valve cusps Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Abnormal number of pulmonary valve cusps Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly in number of teeth (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Associated morphology True Abnormal number (morphologic abnormality) 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 True Abnormal number (morphologic abnormality) 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 True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Anodontia Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Multiple renal arteries Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Anodontia of primary dentition Associated morphology True Abnormal number (morphologic abnormality) 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 True Abnormal number (morphologic abnormality) 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 True Abnormal number (morphologic abnormality) Inferred relationship Some 1
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 True Abnormal number (morphologic abnormality) Inferred relationship Some 5
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is 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 True Abnormal number (morphologic abnormality) Inferred relationship Some 3
A rare, genetic, odontologic disease characterized by 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 True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Epidermolysis bullosa simplex with hypodontia Associated morphology True Abnormal number (morphologic abnormality) 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 True Abnormal number (morphologic abnormality) 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 True Abnormal number (morphologic abnormality) Inferred relationship Some 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 5
Odontoleukodystrophy (disorder) Associated morphology True Abnormal number (morphologic abnormality) 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 True Abnormal number (morphologic abnormality) Inferred relationship Some 2
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 True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Bicuspid aortic valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
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 True Abnormal number (morphologic abnormality) Inferred relationship Some 5
Unicommissural unicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Unicommissural unicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Acommissural unicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Acommissural unicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Anterior-posterior orientation of bicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Right-left orientation of bicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Anterior-posterior orientation of bicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Right-left orientation of bicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
A rare, congenital, non-syndromic heart malformation characterized by 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 True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Bicuspid aortic valve-associated aortopathy (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
X-linked hypodontia (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
X-linked oligodontia (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Congenital absence of one tooth Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Partial congenital absence of teeth Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 2
Four vessels in umbilical cord (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Schöpf-Schulz-Passarge syndrome Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 7
Hemi-uterus with rudimentary cavity (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1
Hemi-uterus without rudimentary cavity (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Some 1

This concept is not in any reference sets

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