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

21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190336012 Developmental malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190337015 Developmental defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190338013 Dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190339017 Anomalous formation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190340015 Abnormal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190341016 Malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208681014 Developmental abnormality en Synonym (core metadata concept) 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
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Some
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital uterine anomaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Accessory ovary Associated morphology False Developmental anomaly Inferred relationship Some 2
    Rotation of tooth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hydromyelocele Associated morphology False Developmental anomaly Inferred relationship Some 1
    Laron-type isolated somatotropin defect Associated morphology False Developmental anomaly Inferred relationship Some
    Encephalo-ophthalmic dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oculodentodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital anomaly of ovary Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital porencephaly Associated morphology False Developmental anomaly Inferred relationship Some 1
    A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Associated morphology False Developmental anomaly Inferred relationship Some
    Uterus arcuatus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Displacement of tooth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Syndactyly of toes with fusion of bones (disorder) Associated morphology False Developmental anomaly Inferred relationship Some
    Brachyphalangia Associated morphology False Developmental anomaly Inferred relationship Some
    Interruption of aortic arch Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of spinal meninges Associated morphology False Developmental anomaly Inferred relationship Some 1
    Redundant prepuce Associated morphology False Developmental anomaly Inferred relationship Some 1
    Redundant prepuce Associated morphology False Developmental anomaly Inferred relationship Some 1
    Gingival cyst of newborn Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 5
    Papillon-Lefèvre syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Floating liver Associated morphology False Developmental anomaly Inferred relationship Some 1
    Polydactyly Associated morphology False Developmental anomaly Inferred relationship Some
    Mietens syndrome Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital absence of forearm with hand AND fingers Associated morphology False Developmental anomaly Inferred relationship Some
    Pseudocryptorchism Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital hepatomegaly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pre-eruptive color change of tooth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Langer-Giedion syndrome Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital esophagobronchial fistula Associated morphology False Developmental anomaly Inferred relationship Some 1
    11p partial monosomy syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Macrodactyly of toe (disorder) Associated morphology False Developmental anomaly Inferred relationship Some
    Glycogen storage disease type VIII Associated morphology False Developmental anomaly Inferred relationship Some 2
    Placenta tripartita Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital absence of foot Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital anomaly of genital organ Associated morphology False Developmental anomaly Inferred relationship Some 2
    Symbrachydactyly Associated morphology False Developmental anomaly Inferred relationship Some
    Longitudinal deficiency of carpal bone Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital varus deformity of foot Associated morphology False Developmental anomaly Inferred relationship Some
    A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital atresia of fallopian tube Associated morphology False Developmental anomaly Inferred relationship Some 2
    Islet cell hyperplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Longitudinal deficiency of tibia Associated morphology False Developmental anomaly Inferred relationship Some
    Multiple anomalies of brain Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital coronary artery sclerosis Associated morphology False Developmental anomaly Inferred relationship Some 5
    Ectromelia Associated morphology False Developmental anomaly Inferred relationship Some
    Cerebellar aplasia Associated morphology False Developmental anomaly Inferred relationship Some 1
    Tenney changes of placenta Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital diverticulum of bronchus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ectopic glial tissue Associated morphology False Developmental anomaly Inferred relationship Some 1
    Brachydactyly Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital stenosis of vagina affecting pregnancy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital stenosis of vagina affecting pregnancy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of male genital system Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of male genital system Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital coloboma of optic disc Associated morphology False Developmental anomaly Inferred relationship Some 2
    Longitudinal deficiency of ulna Associated morphology False Developmental anomaly Inferred relationship Some
    Dubin-Johnson syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital fusion of testis Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital fusion of testis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital pontocerebellar hypoplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Madelung's deformity (disorder) Associated morphology False Developmental anomaly Inferred relationship Some
    Partial aphalangia of upper limb Associated morphology False Developmental anomaly Inferred relationship Some
    Manus cava Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital cardiospasm Associated morphology False Developmental anomaly Inferred relationship Some 2
    Reduction deformity of upper limb Associated morphology False Developmental anomaly Inferred relationship Some
    Ruvalcaba-Myhre syndrome Associated morphology False Developmental anomaly Inferred relationship Some
    Acquired genu recurvatum Associated morphology False Developmental anomaly Inferred relationship Some
    Female infertility due to structural congenital anomaly of vagina Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital anomaly of pancreas Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital duplication of gallbladder Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Septate vagina Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of bile ducts Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital absence of femur Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital shortening of leg Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital absence of humerus Associated morphology False Developmental anomaly Inferred relationship Some
    Manus vara Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anisocoria Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital absence of finger Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital dislocation of hip Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital pseudoporencephaly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital macrodactyly (disorder) Associated morphology False Developmental anomaly Inferred relationship Some
    Metatarsus varus Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital hypertrophic pyloric stenosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Accessory fallopian tube Associated morphology False Developmental anomaly Inferred relationship Some 2
    Roberts-SC phocomelia syndrome Associated morphology False Developmental anomaly Inferred relationship Some
    Premature abnormal placenta Associated morphology False Developmental anomaly Inferred relationship Some 1
    Brachymetapody Associated morphology False Developmental anomaly Inferred relationship Some
    Diastematomyelia Associated morphology False Developmental anomaly Inferred relationship Some 4
    Microgyria Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of gallbladder Associated morphology False Developmental anomaly Inferred relationship Some 1
    Disto-occlusion of teeth Associated morphology False Developmental anomaly Inferred relationship Some 1
    FG syndrome Associated morphology False Developmental anomaly Inferred relationship Some
    Congenital atresia of bronchus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Sinus pericranii Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ectopic testis Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ectopic testis Associated morphology False Developmental anomaly Inferred relationship Some 2

    Start Previous Page 10 of 73 Next End

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start