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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

4996 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital fibre-type disproportion myopathy due to TPM3 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
SATB2-associated syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of craniovertebral junction Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Polymicrogyria due to TUBB2B mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital fibre-type disproportion myopathy due to MYH7 mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Male pseudohermaphroditism due to congenital adrenal hyperplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Female pseudohermaphroditism due to congenital adrenal hyperplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pseudohermaphroditism due to congenital adrenal hyperplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Severe myopia, generalised joint laxity, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
HELIX syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oculomotor apraxia - Cogan type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Milk-induced pulmonary disease in infant Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fetal encasement syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Keppen Lubinsky syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Pierpont syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of left retina Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right retina Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of left lacrimal drainage system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right lacrimal drainage system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital abnormality of lacrimal drainage systems Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital abnormality of lacrimal drainage systems Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Coronal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Paraspadias Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Penoscrotal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Perineal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Scrotal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Male subcoronal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Glanular hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spina bifida and hypospadias syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Pancreatic agenesis, holoprosencephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Primary desmosis coli Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
1p35.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
9q33.3q34.11 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Xq25 microduplication syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
17q24.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
9q21.13 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lethal brain and heart developmental defects syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lethal brain and heart developmental defects syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
11q22.2q22.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
20q11.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
20q11.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
8q24.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
8q24.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
SIM1-related Prader-Willi-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
MAGEL2-related Prader-Willi-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Duane retraction syndrome with congenital deafness Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital peripapillary staphyloma Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontorhiny Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Placenta accreta without haemorrhage Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Placenta extrachorales Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cornual placenta accreta Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Timothy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atypical Timothy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Situs inversus of optic disc Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Exstrophy epispadias complex Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Bilateral congenital anomaly of upper limbs Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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Reference Sets

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