FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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
82870011 Morphologic abnormality en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82871010 Morphologic abnormality, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82872015 Morphologic alteration, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82873013 Morphologic change, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82874019 Abnormal tissue appearance, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
82878016 Abnormal appearance, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
198205018 Lesion en Synonym (core metadata concept) Inactive Only initial character 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

5194 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
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Multiple venous malformation of skin and mucous membrane (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autism spectrum disorder due to AUTS2 deficiency Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Complete situs inversus with dextrocardia (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Encephalocele of orbit Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Basan syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Rachischisis with hydrocephalus Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Hypogonadism with prune belly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hypodontia and nail dysgenesis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Greither type of ectodermal dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connections to inferior caval vein (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cecoureterocele (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Infantile spasm and broad thumb syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Paired teeth microdontia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Mohr syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oro-facial digital syndrome type 5 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
HIVEP2-related intellectual disability Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Peutz-Jeghers polyps of small bowel Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Frank-Ter Haar syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Thoracolaryngopelvic dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oro-facial digital syndrome type 1 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Oro-facial digital syndrome type 12 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 6
Oro-facial digital syndrome type 13 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Otopalatodigital syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Otopalatodigital syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Crisponi syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Angioosteohypotrophic syndrome 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 5
Aortic valve overriding ventricular septum (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Oculocerebrofacial syndrome Kaufman type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Heart defect and limb shortening syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hay-Wells syndrome of ectodermal dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Craniolenticulosutural dysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
14q11.2 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Total anomalous pulmonary venous connection to coronary sinus (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Localized microdontia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oro-facial digital syndrome type 9 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Dilated odontoma (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Renier Gabreels Jasper syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Single tooth microdontia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oto-palato-digital syndrome, type I Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Orofacial-digital syndrome III Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Asymmetric crying face association Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Stern Lubinsky Durrie syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Clastothrix Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Orofacial-digital syndrome IV Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital conductive hearing loss Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Temple Baraitser syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Relative generalised microdontia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
SCARF syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Nasofrontal encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cystic leukoencephalopathy without megalencephaly (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Nasopharyngeal encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Aniridia and absent patella syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Oro-facial digital syndrome type 11 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
X-linked mandibulofacial dysostosis (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4

Start Previous Page 121 of 140 Next End

This concept is not in any reference sets

Back to Start