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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Genetic defect of hair shaft (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cyanotic congenital heart disease NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified cerebrovascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Idiopathic congenital megacolon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Total colonic aganglionosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal fusion of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dilatation of tricuspid annulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital deformity Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital overgrowth of partial lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Overgrowth of partial upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reduction deformities of brain NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Zachary operation for obstetric palsy (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of the circulatory system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other operations for clubfoot Direct morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some
    Unspecified congenital anomalies of hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blind loop syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 8 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell ossification of centrum of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Esophageal atresia, stenosis or fistula NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of cardiac chambers and connections Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital posterior polar cataract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Retrosternal thyroid gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posteromedial muscle band Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of radius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pentalogy of Fallot Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dwarf pelvis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anterior chamber cleavage syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified breast anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 14 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 15 Associated morphology False Congenital anomaly Inferred relationship Some
    Other upper limb and shoulder anomaly OS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clinodactyly with reversed wedge osteotomy Direct morphology False Congenital anomaly Inferred relationship Some 2
    A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Associated morphology False Congenital anomaly Inferred relationship Some 1
    FRAXE Associated morphology False Congenital anomaly Inferred relationship Some
    Assimilation pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Enamel spur Associated morphology False Congenital anomaly Inferred relationship Some 2
    Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Associated morphology False Congenital anomaly Inferred relationship Some 2
    XXYY syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of digestive organ (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 1
    Limb reduction-ichthyosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary patella Associated morphology False Congenital anomaly Inferred relationship Some 2
    A rare X-linked syndromic intellectual disability characterized by 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. Intellectual disability ranges from mild to severe. Associated morphology False Congenital anomaly Inferred relationship Some 2
    Agenesis of nerve, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Severe ichthyoses Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral unstable hip Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clinodactyly with closing wedge osteotomy Direct morphology False Congenital anomaly Inferred relationship Some 2
    Mandibular retrognathism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Reduction of gigantism of hand Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of nipple Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital retinal fold Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left ventricular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    L'Episcopo operation for obstetric palsy (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    4q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Left atrial appendage absent Associated morphology False Congenital anomaly Inferred relationship Some 1
    Polyploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Complete situs inversus with dextrocardia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified stomach anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    21q partial distal trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Ear auricle and external auditory canal absent Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete trisomy 22 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Poly Y syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Reticulate pigmented anomaly of flexures Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bifid scrotum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ulegyria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gallbladder anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital redundant colon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    Retrognathism NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital heart disease, septal and bulbar anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undergrowth of partial upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell ossification of centrum of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified optic disc anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Paravaginal cyst arising in mesonephric duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital brain damage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malposition of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cystic bronchiectasis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified congenital eyelid anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gingival cyst of neonate (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Paramedian facial cleft - Tessier cleft 2 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anterior segment anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital eyelid deformity NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gallbladder anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified congenital eyelid anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of coronary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Osteotomy of body of os calcis for correction congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other branchial cleft malformations Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital bowing of tibia, fibula and femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ebstein's anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1

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