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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Genetic defect of hair shaft (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Tetralogy of Fallot Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit cyanotisk hjertesygdom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret cerebrovaskulær anomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Idiopatisk kongenit megacolon Associated morphology False kongenit anomali Inferred relationship Some 1
    Total colonic aganglionosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormal fusion of supraoccipital bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Dilatation of tricuspid annulus Associated morphology False kongenit anomali Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False kongenit anomali Inferred relationship Some 2
    Correction of congenital deformity Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital overgrowth of partial lower limb (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Overgrowth of partial upper limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Reduktionsdeformiteter af hjernen, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Zachary operation for obstetric palsy (procedure) Direct morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformations of the circulatory system Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre operationer for klumpfod Direct morphology False kongenit anomali Inferred relationship Some 1
    A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Associated morphology False kongenit anomali Inferred relationship Some
    uspecificerede kongenitte håranomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital blind loop syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 8 Associated morphology False kongenit anomali Inferred relationship Some 1
    Brankialfure Associated morphology False kongenit anomali Inferred relationship Some 1
    Dumbbell ossification of centrum of thoracic vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    øsofageal atresi, stenose eller fistel, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of cardiac chambers and connections Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital posterior polar cataract Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida med hydrocephalus, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Retrosternal thyroid gland Associated morphology False kongenit anomali Inferred relationship Some 1
    Posteromedial muscle band Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of radius Associated morphology False kongenit anomali Inferred relationship Some 1
    Pentalogy of Fallot Associated morphology False kongenit anomali Inferred relationship Some 2
    Dwarf pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Forkammerkløvningssyndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    specificerede mammaanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 14 Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 15 Associated morphology False kongenit anomali Inferred relationship Some
    anden overekstremitets- og skulderanomali, nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of clinodactyly with reversed wedge osteotomy Direct morphology False kongenit anomali Inferred relationship Some 2
    A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. Associated morphology False kongenit anomali Inferred relationship Some 1
    FRAXE Associated morphology False kongenit anomali Inferred relationship Some
    Assimilation pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Enamel spur Associated morphology False kongenit anomali Inferred relationship Some 2
    Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance. Associated morphology False kongenit anomali Inferred relationship Some 2
    XXYY syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of digestive organ Associated morphology False kongenit anomali Inferred relationship Some 1
    Supramitral left atrial ring (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Limb reduction-ichthyosis syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Rudimentær patella Associated morphology False kongenit anomali Inferred relationship Some 2
    A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. Associated morphology False kongenit anomali Inferred relationship Some 2
    agenesi af nerve, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Severe ichthyoses Associated morphology False kongenit anomali Inferred relationship Some 1
    Unilateral ustabil hofte Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of clinodactyly with closing wedge osteotomy Direct morphology False kongenit anomali Inferred relationship Some 2
    Mandibular retrognathism Associated morphology False kongenit anomali Inferred relationship Some 2
    Reduction of gigantism of hand Direct morphology False kongenit anomali Inferred relationship Some 2
    Congenital abnormality of nipple Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified congenital malformations of spinal cord Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital retinal fold Associated morphology False kongenit anomali Inferred relationship Some 1
    Left ventricular hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    L'Episcopo operation for obstetric palsy (procedure) Direct morphology False kongenit anomali Inferred relationship Some 1
    4q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Left atrial appendage absent Associated morphology False kongenit anomali Inferred relationship Some 1
    Polyploidy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Complete situs inversus with dextrocardia Associated morphology False kongenit anomali Inferred relationship Some 2
    anden specificeret anomali af mavesækken, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    21q partial distal trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Ear auricle and external auditory canal absent Associated morphology False kongenit anomali Inferred relationship Some 1
    Complete trisomy 22 syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Poly Y syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Reticulate pigmented anomaly of flexures Associated morphology False kongenit anomali Inferred relationship Some 1
    Bifid scrotum Associated morphology False kongenit anomali Inferred relationship Some 1
    Ulegyria Associated morphology False kongenit anomali Inferred relationship Some 1
    Galdeblæreanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital redundant colon (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    reduktionsdeformiteter af hjernen Associated morphology False kongenit anomali Inferred relationship Some 1
    retrognati, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital heart disease, septal and bulbar anomalies Associated morphology False kongenit anomali Inferred relationship Some 1
    Delvis underudvikling af overekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    Dumbbell ossification of centrum of sacral vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    specificeret anomali i synsnervepapil, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Paravaginal cyst arising in mesonephric duct Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital brain damage Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malposition of forepaw phalanx Associated morphology False kongenit anomali Inferred relationship Some 2
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cystic bronchiectasis Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede kongenitte øjenlågsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Gingival cyst of neonate (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Paramedian facial cleft - Tessier cleft 2 Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede anomalier af anteriore segment Associated morphology False kongenit anomali Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of thoracic vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit øjenlågsdeformitet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Galdeblæreanomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Branchial cleft anomaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede kongenitte øjenlågsanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of coronary artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Osteotomy of body of os calcis for correction congenital deformity of foot Direct morphology False kongenit anomali Inferred relationship Some 2
    [X]Other branchial cleft malformations Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital bowing of tibia, fibula and femur Associated morphology False kongenit anomali Inferred relationship Some 1
    Ebstein's anomaly Associated morphology False kongenit anomali Inferred relationship Some 1

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