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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

5194 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
Zachary operation for obstetric palsy (procedure) Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Reduction of congenital hip dislocation by traction Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Correction of congenital deformity of lower limb (procedure) Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Correction of congenital deformity of hand Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Correction of mirror hand Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Repositioning of thumb for cleft hand Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Excision of epiphyseal bar (procedure) Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Excision of epiphyseal bar with autogenous soft tissue graft (procedure) Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Percutaneous transluminal ablation of congenital heart malformation Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Mild androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Mild androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Infertile male syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Infertile male syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Familial caudal dysgenesis (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Realignment of congenital ulnar drift Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast Indirect morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Developmental immaturity Is a True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some
Exstrophy Is a True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some
Hypomyelination Is a True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some
Embryonal rest AND/OR persistent embryonic structure Is a True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some
Ovotestis (morphologic abnormality) Is a True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some
Correction of congenital talipes equinovarus (procedure) Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked intellectual disability hypotonic face syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Juvenile osteochondrosis of tarsus (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
2p15p16.1 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Taurodontia with absent teeth and sparse hair syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Repair of bat ear (procedure) Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Split spinal cord malformation type I (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
XK aprosencephaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Malformation of teeth (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hydrocephalus with anomaly of aqueduct of Sylvius Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Chondrodysplasia punctata, X-linked dominant type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
N syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
MARCH syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Tall stature, intellectual disability, renal anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Overgrowth syndrome with 2q37 translocation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Childhood-onset benign chorea with striatal involvement Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
RERE-related neurodevelopmental syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
TBCK-related intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
SIX homeobox 2-related frontonasal dysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Thickened dental follicle Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Fried syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Disorder of fetus caused by propylthiouracil (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Acquired subpulmonary stenosis associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Cardiospondylocarpofacial syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Kosaki overgrowth syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Christianson syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital generalized hypercontractile muscle stiffness syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Mulberry molar teeth Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 6
Habit tic affecting skin (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Habit tic (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Habit tic affecting hair (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 7
Erythrokeratodermia cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Erythrokeratodermia cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
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

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