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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
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
Lack of ossification of basisphenoid bone Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Acommissural unicuspid aortic valve (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lack of ossification of lacrimal bone Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Congenital abnormality of cardiac ventricle Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Commissural fusion of aortic valve Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Accessory tissue on pulmonary valve cusp Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lack of ossification of premaxilla Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Quadricuspid aortic valve Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Unicommissural unicuspid aortic valve (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lack of ossification of presphenoid bone Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Rhinocephaly Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
13q12.3 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hutchinson's triad Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Tapered teeth (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Developmental anomaly of root of tooth (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Robinow syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Developmental abnormality of tooth size and form Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intramedullary glomus arteriovenous malformation of spinal cord (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Otomandibular dysostosis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Developmental abnormality of cusp of tooth (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Developmental anomaly of crown and root formation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Temporo-auro-mandibular dysostosis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Developmental anomaly of tooth Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Chudley McCullough syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital malformation of bilateral external ears (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital malformation of bilateral external ears (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Genitopalatocardiac syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Genitopalatocardiac syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pitt Hopkins-like syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Emery Nelson syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Emery Nelson syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ataxia, photosensitivity, short stature syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital malformation of bilateral ears (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital malformation of bilateral ears (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Single left ventricle Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Single right ventricle Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
NPHP3-related Meckel-like syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Myelocele with hydrocephalus Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
FLOTCH syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
SCALP syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Dandy-Walker syndrome with spina bifida Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital overriding toes of bilateral feet (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Congenital overriding toes of right foot (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital overriding toes of left foot (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Temtamy preaxial brachydactyly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Didymosis aplasticosebacea (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Temple syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lethal polymalformative syndrome Boissel type Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive cutis laxa type 2B Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant aplasia and myelodysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Long umbilical cord Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Marginal insertion of umbilical cord Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Maxillary asymmetry due to hemifacial hypertrophy Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Asymmetry of jaw Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Maxillary asymmetry due to hemifacial atrophy Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Asymmetry of mandible Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Asymmetry of inferior border of mandible Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Velamentous insertion of umbilical cord Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Asymmetry of maxilla Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Four vessels in umbilical cord (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital malformation of left ear with impairment of hearing Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Photoonycholysis Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Nodular elastosis with cysts and comedones (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Sunburn of third degree Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2

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