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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
2573418018 Absence (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Anonychia with bizarre flexural pigmentation Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ablepharon macrostomia syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia and intellectual disability syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aphalangy and syndactyly with microcephaly syndrome (disorder) Associated morphology True Absence (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 Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Absence of primary mitral chordae tendinae (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudoacardia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial ablepharon Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anodontia of permanent dentition Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ablepharon Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of mitral chordae tendinae (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anodontia Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Anodontia of primary dentition Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ablepharon of bilateral eyelids (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ablepharon of bilateral eyelids (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of chordae tendineae Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Absent pulmonary valve syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital generalized alopecia Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vertical alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sutural alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Triangular alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrichia congenita Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrichia with papular lesions (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of pulmonary valve Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetralogy of Fallot with absent pulmonary valve Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of pulmonary valve cusp (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital tibial deficiency type I Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital localised alopecia Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aglossia-adactyly syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aglossia-adactyly syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypodontia and nail dysgenesis Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Solitary arterial trunk (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent bridging vein Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrioventricular septal defect - isolated atrial component Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Single inlet ventricle with absent atrioventricular connection Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa simplex with hypodontia Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral congenital absence of feet (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital absence of feet (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Common atrioventricular canal Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ear auricle and external auditory canal absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ear auricle and external auditory canal absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of part of upper arm Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with confluent pulmonary arteries Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with non-confluent pulmonary arteries Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of lacrimal drainage structure (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of heart structure (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence, atresia and stenosis of small intestine Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of quadriceps muscle (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital absence of ovary (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital absence of ovary (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital absence of fallopian tube Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital absence of fallopian tube Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absent hemidiaphragm - bilateral (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absent hemidiaphragm - bilateral (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Absent pulmonary trunk (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atresia of pulmonary trunk with absent left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Absent aortic valve cusp (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent ductus venosus (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent venous duct with direct connection of umbilical vein to right atrium Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital alopecia with keratin cysts (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Pulmonary trunk absent with absent left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with absent left pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia of upper limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of urinary bladder and urethra (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of urinary bladder and urethra (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of left atrioventricular valve papillary muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right ventricular outflow tract absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ventricular septal defect with malaligned outlet septum and overriding truncal valve (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ascending aorta absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with absent pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with absent pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Absent common atrioventricular valve papillary muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent right atrioventricular valve leaflets (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of right atrioventricular valve papillary muscle (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cor triloculare biventriculare (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent mitral papillary muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary atresia with absent pulmonary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right atrial appendage absent (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Left atrial appendage absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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