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418560003: Absence (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2573418018 Absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2576693013 Absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8681000077116 absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absence (morphologic abnormality) Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Anonychia with bizarre flexural pigmentation Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology True Absence (morphologic abnormality) 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 Absence (morphologic abnormality) Inferred relationship Some 3
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Associated morphology True Absence (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 Absence (morphologic abnormality) Inferred relationship Some 1
Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Absence of primary mitral chordae tendinae (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Pseudoacardia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial ablepharon Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anodontia of permanent dentition (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Ablepharon Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of mitral chordae tendinae (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anodontia Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Anodontia of primary dentition Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Ablepharon of bilateral eyelids (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Ablepharon of bilateral eyelids (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of chordae tendineae Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent pulmonary valve syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital generalised alopecia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Vertical alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Sutural alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Triangular alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Atrichia congenita (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of pulmonary valve Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of pulmonary valve cusp (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital tibial deficiency type I Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital localised alopecia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aglossia-adactyly syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aglossia-adactyly syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Hypodontia and nail dysgenesis Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Solitary arterial trunk Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent bridging vein Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect - isolated atrial component Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Single inlet ventricle with absent atrioventricular connection (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Bilateral congenital absence of feet (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital absence of feet (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Common atrioventricular canal Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Ear auricle and external auditory canal absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Ear auricle and external auditory canal absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of part of upper arm Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pulmonary trunk with confluent pulmonary arteries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pulmonary trunk with non-confluent pulmonary arteries Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lacrimal drainage structure (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of heart structure (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence, atresia and stenosis of small intestine Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of quadriceps muscle (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital absence of ovary (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital absence of ovary (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Bilateral congenital absence of fallopian tube (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital absence of fallopian tube (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absent hemidiaphragm - bilateral Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absent hemidiaphragm - bilateral Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
absence de tronc pulmonaire Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Atresia of pulmonary trunk with absent left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Absent aortic valve cusp (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent ductus venosus (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to right atrium (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital alopecia with keratin cysts (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete congenital absence of pulmonary trunk with complete congenital absence of left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Phocomelia of upper limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of urinary bladder and urethra (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of urinary bladder and urethra (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of left atrioventricular valve papillary muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Right ventricular outflow tract absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Ascending aorta absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Absent common atrioventricular valve papillary muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent right atrioventricular valve leaflets Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right atrioventricular valve papillary muscle (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Cor triloculare biventriculare (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent mitral papillary muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Pulmonary atresia with absent pulmonary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Right atrial appendage absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Left atrial appendage absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1

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