FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Bicuspid cardiac valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Quadricuspid cardiac valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monocuspid cardiac valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Single coronary artery Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Abnormal number of cardiac valve cusps (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Oligomeganephronic hypoplasia of kidney Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Uterus unicornis (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anodontia of permanent dentition Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial hypodontia Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypodontia and nail dysgenesis Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bicuspid doming of aortic cusp Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Unicuspid pulmonary valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Quadricuspid pulmonary valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Unicuspid aortic valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Quadricuspid aortic valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Abnormal number of aortic valve cusps Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Abnormal number of pulmonary valve cusps Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly in number of teeth Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Anodontia Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple renal arteries Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anodontia of primary dentition Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial bicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudounicornuate uterus (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trichodermodysplasia and dental alterations syndrome Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
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 Existential restriction modifier (core metadata concept) 3
Oligodontia and cancer predisposition syndrome Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Epidermolysis bullosa simplex with hypodontia Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
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 True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Bicuspid aortic valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Unicommissural unicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Unicommissural unicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acommissural unicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acommissural unicuspid aortic valve Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anterior-posterior orientation of bicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right-left orientation of bicuspid aortic valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anterior-posterior orientation of bicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Right-left orientation of bicuspid pulmonary valve (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormal number of coronary ostia Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bicuspid aortic valve-associated aortopathy (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked hypodontia (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked oligodontia (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of one tooth Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial congenital absence of teeth (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Four vessels in umbilical cord (disorder) Associated morphology True Abnormal number (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

Back to Start