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49755003: Morphologically abnormal structure (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym Active Entire term case insensitive SNOMED CT core module
495494014 Morphologically abnormal structure en Synonym Active Entire term case insensitive SNOMED CT core module
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5006 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Body structure, altered from its original anatomical structure true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Lack of ossification of basisphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Acommissural unicuspid aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Lack of ossification of lacrimal bone Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Congenital abnormality of cardiac ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Commissural fusion of aortic valve Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Accessory tissue on pulmonary valve cusp Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Lack of ossification of premaxilla Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Quadricuspid aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Unicommissural unicuspid aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Lack of ossification of presphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Rhinocephaly Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
13q12.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
14q24.1q24.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Hutchinson's triad Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Tapered teeth Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Developmental anomaly of root of tooth Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Robinow syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Developmental abnormality of tooth size and form Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Intramedullary glomus arteriovenous malformation of spinal cord Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intramedullary and extramedullary arteriovenous malformation of spinal cord Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Otomandibular dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Developmental abnormality of cusp of tooth Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Developmental anomaly of crown and root formation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Temporo-auro-mandibular dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Developmental anomaly of tooth Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Chudley McCullough syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital malformation of bilateral external ears Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital malformation of bilateral external ears Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Craniofacial dysplasia osteopenia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Craniofacial dysplasia osteopenia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Genitopalatocardiac syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Genitopalatocardiac syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Flat face, microstomia, ear anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Flat face, microstomia, ear anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Pitt Hopkins-like syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Emery Nelson syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Emery Nelson syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Ataxia, photosensitivity, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital malformation of bilateral ears Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital malformation of bilateral ears Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Single left ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Single right ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Nephrocystin 3-related Meckel-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Myelocele with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Progeroid and marfanoid aspect, lipodystrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Dandy-Walker syndrome with spina bifida Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, severe speech delay, mild dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital overriding toes of bilateral feet Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Congenital overriding toes of right foot Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Congenital overriding toes of left foot Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Temtamy preaxial brachydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Didymosis aplasticosebacea Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Temple syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Lethal polymalformative syndrome Boissel type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal recessive cutis laxa type 2B Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal dominant aplasia and myelodysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Skin fragility, wooly hair, palmoplantar keratoderma syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital deformity of bilateral upper limbs Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital deformity of bilateral upper limbs Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Long umbilical cord Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Marginal insertion of umbilical cord Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Maxillary asymmetry due to hemifacial hypertrophy Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Asymmetry of jaw Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Maxillary asymmetry due to hemifacial atrophy Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Asymmetry of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Asymmetry of inferior border of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Velamentous insertion of umbilical cord Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Asymmetry of maxilla Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Four vessels in umbilical cord Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Impairment of hearing of left ear co-occurrent and due to congenital ear malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Photoonycholysis Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Nodular elastosis with cysts and comedones Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Sunburn of third degree Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2

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