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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5035 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure (morphologic abnormality) Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Multiple anterior segment anomalies Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Fusion of kidneys (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of thyroid cartilage Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Focal dermal hypoplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Axial mesodermal dysplasia spectrum (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Strudwick type Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Bertolotti's syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of parathyroid glands Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital myopathy with abnormal subcellular organelles Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hypospadias and epispadias Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Epiblepharon (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Leukonychia totalis (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Microphthalmia with linear skin defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Isolation of left common carotid artery (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lack of ossification of scapula Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Abnormal lung lobation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Anomalous valve of coronary sinus Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Inverted pelvis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
11p15.4 microduplication syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Anterolateral muscle band Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital portal-systemic shunt Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of presphenoid bone Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital abnormality of uterus complicating antenatal care, baby not yet delivered Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of vas deferens Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Straight back syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital abnormality of tricuspid papillary muscle (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of cartilage Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Trichodental syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Faun tail syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Renal hepatic pancreatic dysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Craniomicromelic syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Anonychia with bizarre flexural pigmentation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ectopic pancreas in duodenum Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Dermodental dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Tricho-onychodental dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hadziselimovic syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Microcephalic primordial dwarfism Montreal type Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Frontonasal dysplasia sequence Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Naxos disease Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Salamon's syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Thoracolumbar spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Complete phocomelia of upper limb Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Flynn-Aird syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hypohidrotic X-linked ectodermal dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Megacystis-megaureter syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Dyssegmental dysplasia Silverman Handmaker type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Occipital encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Ectodermal dysplasia, syndactyly and pili torti Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Johanson-Blizzard syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Situs inversus abdominalis Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Robinow-like syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Relative generalised macrodontia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Infracardiac location of anomalous pulmonary venous connection with two descending veins (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Schinzel-Giedion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lethal faciocardiomelic dysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Duane-radial ray syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Fried's tooth and nail syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Van den Bosch syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hypohidrosis-diabetes insipidus syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hemifacial hyperplasia strabismus syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Odonto-onycho-dermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
8q22.1 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Primary tethered cord syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Encephalocele of vertex (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Situs inversus thoracis Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Stapes ankylosis with broad thumb and toe syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Nijmegen breakage syndrome-like disorder (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Situs inversus with levocardia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Acrorenal mandibular syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Notomelus Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oro-facial digital syndrome type 14 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Spina bifida aperta of cervical spine (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Acropectorovertebral dysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Autosomal recessive amelia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2

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