FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

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
    A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. Associated morphology False kongenit anomali Inferred relationship Some 1
    Cutis laxa, recessive, type I Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormal shape of spleen Associated morphology False kongenit anomali Inferred relationship Some 2
    brankiogent rudiment Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of nasal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Dilation of mitral annulus (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Division of constricting band on limb Direct morphology False kongenit anomali Inferred relationship Some 2
    Ichthyosis linearis circumflexa Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali af pulmonalvenerne, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Craniofacial microsomia Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida of lumbar region Associated morphology False kongenit anomali Inferred relationship Some 2
    Repositioning of thumb for cleft hand Direct morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of penis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of cardiac connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Deep vein hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormality of neurogenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of small intestine Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of maxilla Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of metatarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificerede kongenitte negleanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Café-au-lait macules with pulmonary stenosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    andre anomalier af underekstremiteter og bækkenringen Associated morphology False kongenit anomali Inferred relationship Some 1
    Dermatoglyphs - skin lines Associated morphology False kongenit anomali Inferred relationship Some 1
    1p partial monosomy Associated morphology False kongenit anomali Inferred relationship Some
    Hydromyeli Associated morphology False kongenit anomali Inferred relationship Some 2
    Uspecificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Primary correction of congenital deformity of foot Direct morphology False kongenit anomali Inferred relationship Some 1
    Hypogonadism with anosmia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malrotation of claw Associated morphology False kongenit anomali Inferred relationship Some 2
    Sex chromosome abnormality - female phenotype Associated morphology False kongenit anomali Inferred relationship Some
    Pindsvinemenneske Associated morphology False kongenit anomali Inferred relationship Some 1
    Rudimentær brystvorte Associated morphology False kongenit anomali Inferred relationship Some 1
    Follicular ichthyosis Associated morphology False kongenit anomali Inferred relationship Some 1
    lungeanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group D Associated morphology False kongenit anomali Inferred relationship Some 1
    Left sided atrium connecting to ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit megacolon Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group F Associated morphology False kongenit anomali Inferred relationship Some 1
    Gelmans operation Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of thoracic cage Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of humerus Associated morphology False kongenit anomali Inferred relationship Some 1
    frog fetus Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali i cartilago cricoidea Associated morphology False kongenit anomali Inferred relationship Some 1
    striktur af ossøs del af meatus acusticus externus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of thyroid cartilage Associated morphology False kongenit anomali Inferred relationship Some 1
    Ektopiske fordøjelsesorganer, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Double orifice of tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of lumbar vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Reifensteins syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of arch of lumbar vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of femur Associated morphology False kongenit anomali Inferred relationship Some 1
    Pelvis plana Associated morphology False kongenit anomali Inferred relationship Some 1
    Pectus carinatum Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of pulmonary valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Knogle- og ledmisdannelse Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte retinaforandringer, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Genu recurvatum and long leg bone bowing Associated morphology False kongenit anomali Inferred relationship Some 1
    Omental cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    Two chambered right ventricle (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Unormalt stor tuberculum coronae dentis Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte anomalier af hånd Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of hindpaw phalanx Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital cardiovascular deformity (procedure) Direct morphology False kongenit anomali Inferred relationship Some 1
    Autosomal recessive centronuclear myopathy Associated morphology False kongenit anomali Inferred relationship Some 1
    andre tarmanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    12p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    kongenit hydrocefalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Giant left atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    Deletion of long arm of chromosome 18 Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of spinal meninges Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit anomali i det kardiovaskulære system, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False kongenit anomali Inferred relationship Some
    Spina bifida of dorsal region (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Genu varum, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Endocardial fibroelastosis of left atrium (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    anden anomali af larynx, trachea og bronkie Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of the whole foot Associated morphology False kongenit anomali Inferred relationship Some 1
    Neural tube defect Associated morphology False kongenit anomali Inferred relationship Some 1
    Hereditary clubbing Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormality of right atrial appendage Associated morphology False kongenit anomali Inferred relationship Some 1
    Oesophageal atresia, stenosis and fistula Associated morphology False kongenit anomali Inferred relationship Some 1
    Posteriorly rotated ear Associated morphology False kongenit anomali Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 5 Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital transverse mandibular hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of nasal septum Associated morphology False kongenit anomali Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte anomalier af underben Associated morphology False kongenit anomali Inferred relationship Some 1
    balanceret rearrangement eller strukturel markør, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of oral mucosa Associated morphology False kongenit anomali Inferred relationship Some 1
    Mirror imaged atria Associated morphology False kongenit anomali Inferred relationship Some 1
    Cutaneous syndrome with ichthyosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital epulis of newborn Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital conjunctival cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital spondylolisthesis of cervical vertebra (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Soft tissue release for correction of congenital deformity of forefoot Direct morphology False kongenit anomali Inferred relationship Some 2
    andre aortaanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Splayleg in piglets Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte anomalier af underarm Associated morphology False kongenit anomali Inferred relationship Some 1
    Cortical dysplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterusanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Kamptodaktyli – anden eller multipel Associated morphology False kongenit anomali Inferred relationship Some 1

    Start Previous Page 112 of 124 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

    Back to Start