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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
Zachary operation for obstetric palsy Direct morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Reduction of congenital hip dislocation by traction Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Correction of congenital deformity of lower limb Direct morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Correction of congenital deformity of hand Direct morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Correction of mirror hand Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Repositioning of thumb for cleft hand Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Excision of epiphyseal bar Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Excision of epiphyseal bar with autogenous soft tissue graft Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Percutaneous transluminal ablation of congenital malformation of heart Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Mild androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Mild androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Infertile male syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Infertile male syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Familial caudal dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Realignment of congenital ulnar drift Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Sclerotherapy of vascular malformation of orbit using fluoroscopic guidance with contrast Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Sclerotherapy of vascular malformation of orbit using fluoroscopic guidance with contrast Indirect morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Developmental immaturity Is a True Morphologically abnormal structure Inferred relationship Existential restriction modifier
Exstrophy Is a True Morphologically abnormal structure Inferred relationship Existential restriction modifier
Hypomyelination Is a True Morphologically abnormal structure Inferred relationship Existential restriction modifier
Embryonal rest AND/OR persistent embryonic structure Is a True Morphologically abnormal structure Inferred relationship Existential restriction modifier
Ovotestis Is a True Morphologically abnormal structure Inferred relationship Existential restriction modifier
Correction of congenital talipes equinovarus Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
X-linked intellectual disability hypotonic face syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Juvenile osteochondrosis of tarsus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Angelman syndrome due to maternal monosomy 15q11q13 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Angelman syndrome due to maternal monosomy 15q11q13 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
2p15p16.1 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Taurodontia with absent teeth and sparse hair syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Repair of bat ear Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Split spinal cord malformation type I Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
XK aprosencephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Malformation of teeth Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Hydrocephalus with anomaly of aqueduct of Sylvius Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Chondrodysplasia punctata, X-linked dominant type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
N syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Tall stature, intellectual disability, renal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Overgrowth syndrome with 2q37 translocation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Childhood-onset benign chorea with striatal involvement Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
TBC1 domain containing kinase-related intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
SIX homeobox 2-related frontonasal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Camptodactyly syndrome Guadalajara type 3 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Camptodactyly syndrome Guadalajara type 3 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Thickened dental follicle Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Fried syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Disorder of fetus caused by propylthiouracil Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Acquired subpulmonary stenosis associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Acquired subaortic stenosis associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Cardiospondylocarpofacial syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Kosaki overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
X-linked intellectual disability with marfanoid habitus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
X-linked intellectual developmental disorder Christianson type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital generalized hypercontractile muscle stiffness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Mulberry molar teeth Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Kallman syndrome with heart disease Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Habit tic affecting skin Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Habit tic Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Habit tic affecting hair Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 7
Erythrokeratodermia cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Erythrokeratodermia cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
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

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