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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
Aphakic bullous keratopathy of left eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakic bullous keratopathy of right eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Tonsil absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of bilateral tonsils (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of bilateral tonsils (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital aniridia of right eye (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital aniridia of left eye (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Ischemic alopecia due to birth injury Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of vagina Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Sirenomelus (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Traumatic enucleation of eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Traumatic aniridia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral split foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Congenital split of bilateral hands (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of rib Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lung Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ear Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nose Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of jaw Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of chin Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of anus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ulna Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right pulmonary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left pulmonary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lobe of lung Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete congenital absence of pulmonary trunk with complete congenital absence of right pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of right pulmonary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of vein Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of hand (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of uvula Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vulva Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ovary Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of penis Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of femur Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of thumb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of tibia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of aorta Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ilium Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pubis Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of liver Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of talus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of mouth Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of rectum Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vomer Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of uterus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of body of uterus (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of multiple toes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of great toe Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of fifth toe Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of fourth and fifth toes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of fourth and fifth toes Associated morphology True Absence (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 False Absence (morphologic abnormality) Inferred relationship Some 2
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of left forearm and hand (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of right forearm and hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right forearm and hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of left foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of all bilateral toes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of all bilateral toes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Common atrium with separate arterioventricular junctions (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Common atrium with common atrioventricular junction (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of chordae tendineae of tricuspid valve (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of carpal bone and metacarpal bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of carpal bone and metacarpal bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of bilateral breasts (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bilateral breasts (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of bilateral forearms and hands (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bilateral forearms and hands (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of bilateral forearms and hands (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of bilateral forearms and hands (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Bilateral congenital absence of both lower leg and foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital absence of both lower leg and foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Bilateral congenital absence of both lower leg and foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Bilateral congenital absence of both lower leg and foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Congenital absence of cystic duct Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of tibia and fibula Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of tibia and fibula Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partial aphalangia of lower limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pelvis and lower limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pelvis and lower limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete aphalangia of lower limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of nipple Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ureter Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of fibula Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of finger Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent testicle (congenital) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of tendon Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of radius Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of thymus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1

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