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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
Vitreous loss (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partially edentulous maxilla (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acute telogen effluvium (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Traumatic loss of kidney (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Split foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of spine Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital cleft hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 5
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Cleft hand - first cleft Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Cleft hand - central Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Cleft hand with syndactyly Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Cleft hand with polydactyly Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 5
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 5
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Ectrodactyly Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Holoanencephaly (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of all toes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of toe Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
11p partial monosomy syndrome Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of cervix Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Single umbilical artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of broad ligament Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital aniridia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of breast Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of alimentary tract Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of gastric muscle (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital partial absence of alimentary tract Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent eyebrow Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of adrenal gland Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of skull bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aniridia type 1 Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of breast with absent nipple Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Aniridia type 2 (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ileum Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pituitary gland Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of abdominal muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aplasia Is a True Absence (morphologic abnormality) Inferred relationship Some
A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
hémimélie d'un membre inférieur Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Hydranencephaly with proliferative vasculopathy Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Incomplete anencephaly Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anencephalus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anencephaly without rachischisis (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Hydranencephaly Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Hemicephaly Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Transverse deficiency lower limb - hip level Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency lower limb - metatarsal level Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of part of brain Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Fetal anencephaly (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency of lower limb Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency lower limb - knee level Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency lower limb - through femur Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency lower limb - through tibia/fibula Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Holoanencephaly (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Functional single ventricle (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Single right ventricle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Single left ventricle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Common ventricle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital aniridia of eyes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Bilateral congenital aniridia of eyes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Mucogingival deformity on edentulous ridge (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Mucogingival deformity on edentulous ridge due to lack of keratinized gingiva (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Mucogingival deformity on edentulous ridge due to decreased vestibular depth (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of auricle with stenosis of auditory canal Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Mucogingival deformity on edentulous ridge due to aberrant insertion of frenum of tongue (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
absence de vaisseau sanguin dans le cordon ombilical Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
vaisseau unique du cordon ombilical Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
hémimélie d'un membre supérieur Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 3
Acquired absence of deciduous teeth Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of permanent teeth Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Hemianencephaly Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Swelling of gingival and edentulous alveolar ridge caused by drug Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Gingival and edentulous alveolar ridge lesion due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Congenital absence of skin on scalp Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia - no lens capsule Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia - lens capsule present Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia - Soemmering's ring Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia - Elschnig's pearls Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Thickening of lens capsule in aphakia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Aphakic corneal oedema Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia of right eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia of left eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia of bilateral eyes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakia of bilateral eyes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Bullous aphakic keratopathy following cataract surgery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakic bullous keratopathy of left eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1

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