FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7-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
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie du développement Is a anomalie congénitale false Inferred relationship Some
    anomalie du développement Is a Morphologically abnormal structure false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital malformation of eye, ear and neck (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital malformation of eye, ear and neck (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Associated morphology False anomalie du développement Inferred relationship Some 1
    Platyspondylia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital bent radius Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital undergrowth of whole of lower limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of scapula Associated morphology False anomalie du développement Inferred relationship Some 2
    bras rudimentaire Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital nuclear ophthalmoplegia Associated morphology False anomalie du développement Inferred relationship Some 2
    Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Associated morphology False anomalie du développement Inferred relationship Some 3
    Incomplete ossification of metacarpal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False anomalie du développement Inferred relationship Some 3
    Incomplete ossification of scapula Associated morphology False anomalie du développement Inferred relationship Some 2
    Juvenile pelvis Associated morphology False anomalie du développement Inferred relationship Some 2
    Tuberous sclerosis syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of cervical vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Rieger syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Supernumerary centrum of sacral vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Pelvis justo minor Associated morphology False anomalie du développement Inferred relationship Some 2
    Extralobar bronchopulmonary sequestration Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalies of hypothalamus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of lip Associated morphology False anomalie du développement Inferred relationship Some 2
    Complete aphalangia of upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Cervical spina bifida with hydrocephalus - closed Associated morphology False anomalie du développement Inferred relationship Some 4
    Cervical spina bifida with hydrocephalus - closed Associated morphology False anomalie du développement Inferred relationship Some 5
    Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of ossicles of ear Associated morphology False anomalie du développement Inferred relationship Some 2
    Muscular ventricular septal defect in apical trabecular septum Associated morphology False anomalie du développement Inferred relationship Some 2
    Reduction deformity of upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Spina bifida aperta of lumbar spine (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Spina bifida aperta of lumbar spine (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Lethal white syndrome of foals Associated morphology False anomalie du développement Inferred relationship Some 2
    Cervical auricle Associated morphology False anomalie du développement Inferred relationship Some 3
    Pulmonary atresia with ventricular septal defect of Fallot type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Ectopic bone and cartilage in lung Associated morphology False anomalie du développement Inferred relationship Some 2
    Rotational orbital dystopia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Synechia vulvae Associated morphology False anomalie du développement Inferred relationship Some 2
    Undergrowth of upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Abnormal liver lobulation Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of premaxilla Associated morphology False anomalie du développement Inferred relationship Some 4
    Partial aphalangia of upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of ovary Associated morphology False anomalie du développement Inferred relationship Some 2
    Camptodactyly Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital laryngeal abductor palsy Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of male genital system Associated morphology False anomalie du développement Inferred relationship Some 3
    Duane's syndrome, type 3 Associated morphology False anomalie du développement Inferred relationship Some 2
    Cervical thymic remnant Associated morphology False anomalie du développement Inferred relationship Some 3
    Pit of optic disc Associated morphology False anomalie du développement Inferred relationship Some 2
    Type 1 lissencephaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cerebral meningocele Associated morphology False anomalie du développement Inferred relationship Some 4
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Amyoplasie, kongenitale Associated morphology False anomalie du développement Inferred relationship Some 3
    Macrophthalmos Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital spade-like hand Associated morphology False anomalie du développement Inferred relationship Some 2
    Ear, face and neck congenital anomalies Associated morphology False anomalie du développement Inferred relationship Some 2
    Ear, face and neck congenital anomalies Associated morphology False anomalie du développement Inferred relationship Some 3
    Ear, face and neck congenital anomalies Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of subcutaneous tissue Associated morphology False anomalie du développement Inferred relationship Some 2
    Thyroglossal duct sinus (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Low set ears Associated morphology False anomalie du développement Inferred relationship Some 2
    Testicular dysgenesis Associated morphology False anomalie du développement Inferred relationship Some 2
    Supernumerary lacrimal punctum Associated morphology False anomalie du développement Inferred relationship Some 2
    Myotubular myopathy with type I atrophy Associated morphology False anomalie du développement Inferred relationship Some 2
    A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Associated morphology False anomalie du développement Inferred relationship Some 3
    A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Associated morphology False anomalie du développement Inferred relationship Some 4
    Talipes equinus Associated morphology False anomalie du développement Inferred relationship Some 3
    Optic disc structural anomaly (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital corneal keloid (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Lack of ossification of hyoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Myelinated nerve fibers of optic disc Associated morphology False anomalie du développement Inferred relationship Some 2
    Oculodento-osseous dysplasia - mild type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of ear with impairment of hearing Associated morphology False anomalie du développement Inferred relationship Some 2
    Clinodactyly with delta phalanx Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False anomalie du développement Inferred relationship Some 3
    Status marmoratus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of metatarsal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Muscle eye brain disease Associated morphology False anomalie du développement Inferred relationship Some 2
    Gastroschisis Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital thickening of radius Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of arch of cervical vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital overgrowth of distal lower limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Doubly committed subarterial ventricular septal defect with membranous septum extension Associated morphology False anomalie du développement Inferred relationship Some 3
    Split spinal cord malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False anomalie du développement Inferred relationship Some 1
    Hemicentric sacral centrum Associated morphology False anomalie du développement Inferred relationship Some 2
    Radioulnar dysostosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False anomalie du développement Inferred relationship Some 4
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False anomalie du développement Inferred relationship Some 5
    Spina bifida of sacral region (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Spina bifida of sacral region (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Persistent thyroglossal duct Associated morphology False anomalie du développement Inferred relationship Some 3
    Encephalocele of orbit Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of blood vessel of upper limb (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Trilobular liver Associated morphology False anomalie du développement Inferred relationship Some 2
    Peutz-Jeghers polyps of small bowel Associated morphology False anomalie du développement Inferred relationship Some 5
    Congenital degeneration of nervous system Associated morphology False anomalie du développement Inferred relationship Some 2
    Mirror hands Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital lip pits Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital lateral curvature of penis Associated morphology False anomalie du développement Inferred relationship Some 4
    X-linked muscular dystrophy with abnormal dystrophin Associated morphology False anomalie du développement Inferred relationship Some 3

    Start Previous Page 42 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