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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
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Gabriele-de Vries syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Stromme syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Witteveen Kolk syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Sugarman brachydactyly Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Microcephalic cortical malformations, short stature due to rotatin deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Tubulinopathy-associated dysgyria Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Basel Vanagaite Smirin Yosef syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Osteogenesis imperfecta, type IV B Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Hallermann Streiff like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Sanjad Sakati syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Posterior meningocele Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Microform holoprosencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal recessive dysgenesis of anterior segment of eye Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Familial cavitary optic disc anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Dieulafoy lesion of small intestine Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Dieulafoy lesion of small intestine Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital fiber-type disproportion myopathy due to ZAK mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital fiber-type disproportion myopathy due to selenoprotein N mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Severe oculo-renal-cerebellar syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Eye defects, arachnodactyly, cardiopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Eye defects, arachnodactyly, cardiopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Fryns Smeets Thiry syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Special AT-rich sequence-binding protein 2-associated syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of craniovertebral junction Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Polymicrogyria due to tubulin beta 2B class IIb mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Joint contractures, developmental delay, Pierre Robin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Male pseudohermaphroditism due to congenital adrenal hyperplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Female pseudohermaphroditism due to congenital adrenal hyperplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Pseudohermaphroditism due to congenital adrenal hyperplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Severe myopia, generalized joint laxity, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, short bowel, asplenia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Ocular motor apraxia Cogan type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Milk-induced pulmonary disease in infant Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Fetal encasement syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Keppen Lubinsky syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Pierpont syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Congenital anomaly of retina of left eye Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of retina of right eye Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital abnormality of left lacrimal drainage system Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital abnormality of right lacrimal drainage system Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital abnormality of bilateral lacrimal drainage systems Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital abnormality of bilateral lacrimal drainage systems Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Coronal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Paraspadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Penoscrotal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2

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