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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

5206 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
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Gabriele-de Vries syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Stromme syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Witteveen Kolk syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Sugarman brachydactyly (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Tubulinopathy-associated dysgyria (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Osteogenesis imperfecta, type IV B Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hallermann Streiff like syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Sanjad Sakati syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Posterior meningocele Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Microform holoprosencephaly Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive dysgenesis of anterior segment of eye Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Familial cavitary optic disc anomaly (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Dieulafoy lesion of small intestine Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Dieulafoy lesion of small intestine Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital fiber-type disproportion myopathy due to ZAK mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to SELENON mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Severe oculo-renal-cerebellar syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Eye defects, arachnodactyly, cardiopathy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Eye defects, arachnodactyly, cardiopathy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Fryns Smeets Thiry syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to TPM3 mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
SATB2-associated syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of craniovertebral junction (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Polymicrogyria due to TUBB2B mutation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Male pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Female pseudohermaphroditism due to congenital adrenal hyperplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Ocular motor apraxia Cogan type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Milk-induced pulmonary disease in infant Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Fetal encasement syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Keppen Lubinsky syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Pierpont syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital anomaly of retina of left eye (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of right retina Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital abnormality of left lacrimal drainage system (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital abnormality of right lacrimal drainage system (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Coronal hypospadias Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Paraspadias Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Penoscrotal hypospadias (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2

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