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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
    Andersen Tawil syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Andersen Tawil syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Mirror imaged atria Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital superior sulcus anomaly of orbit Associated morphology False anomalie du développement Inferred relationship Some 1
    Cervical, vaginal and external female genital anomalies Associated morphology False anomalie du développement Inferred relationship Some 2
    Cervical, vaginal and external female genital anomalies Associated morphology False anomalie du développement Inferred relationship Some 4
    Cervical, vaginal and external female genital anomalies Associated morphology False anomalie du développement Inferred relationship Some 5
    A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Associated morphology False anomalie du développement Inferred relationship Some 1
    Colonna osteotomy for congenital deformity of hip Direct morphology False anomalie du développement Inferred relationship Some 3
    ostéoplastie de retournement de la cheville Direct morphology False anomalie du développement Inferred relationship Some 3
    Wedge tarsectomy for correction congenital deformity of foot Direct morphology False anomalie du développement Inferred relationship Some 3
    Isomerism of left atrial appendage (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    A rare heterotaxia characterised by complex congenital heart malformations and abnormal lateralisation of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. Associated morphology False anomalie du développement Inferred relationship Some 3
    Soft tissue release for correction of congenital deformity of midfoot (procedure) Direct morphology False anomalie du développement Inferred relationship Some 3
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False anomalie du développement Inferred relationship Some 3
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False anomalie du développement Inferred relationship Some 3
    Congenital lower lip pits (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Correction of tibial pseudoarthrosis by free fibula graft Direct morphology False anomalie du développement Inferred relationship Some 4
    Primary osteotomy of pelvis for correction of congenital deformity of hip Direct morphology False anomalie du développement Inferred relationship Some 3
    Creation of tibiofibular synostosis Direct morphology False anomalie du développement Inferred relationship Some 1
    Congenital vesicoureterorenal reflux (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Craniolacunia Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital spondylolysis of lumbosacral region Associated morphology False anomalie du développement Inferred relationship Some 2
    Intra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False anomalie du développement Inferred relationship Some 3
    Shelf procedure for congenital dislocation of the hip Direct morphology False anomalie du développement Inferred relationship Some 2
    Cobb's syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Proximal femoral osteotomy for correction of congenital dislocation of the hip Direct morphology False anomalie du développement Inferred relationship Some 3
    Repair of congenital pseudoarthrosis of tibia Direct morphology False anomalie du développement Inferred relationship Some 3
    Femoral osteotomy for correction of congenital deformity of hip Direct morphology False anomalie du développement Inferred relationship Some 2
    Osteotomy of ilium for correction of congenital deformity of hip Direct morphology False anomalie du développement Inferred relationship Some 3
    Correction of congenital deformity of shoulder or upper arm Direct morphology False anomalie du développement Inferred relationship Some 2
    Ectodermal dysplasia with hair-nail defect Associated morphology False anomalie du développement Inferred relationship Some 5
    Correction of congenital cardiovascular deformity (procedure) Direct morphology False anomalie du développement Inferred relationship Some 2
    L'Episcopo operation for obstetric palsy (procedure) Direct morphology False anomalie du développement Inferred relationship Some 2
    Tricho-oculodermovertebral syndrome Associated morphology False anomalie du développement Inferred relationship Some 5
    Congenital abduction contracture of hip Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False anomalie du développement Inferred relationship Some 2
    Blepharophimosis syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    Periodontitis co-occurrent with Cohen syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital occlusion of iliac vein Associated morphology False anomalie du développement Inferred relationship Some 2
    Hooded penis Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital macular corneal dystrophy Associated morphology False anomalie du développement Inferred relationship Some 1
    Lattice corneal dystrophy, isolated form Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital occlusion of coronary sinus Associated morphology False anomalie du développement Inferred relationship Some 2
    Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital malformation caused by cytotoxic agents (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital occlusion of femoral vein (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Ectodermal dysplasia with hair-nail defect Associated morphology False anomalie du développement Inferred relationship Some 3
    Tricho-oculodermovertebral syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital pulmonary venous atrium Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital systemic venous atrium Associated morphology False anomalie du développement Inferred relationship Some 3
    Craniotabes Associated morphology False anomalie du développement Inferred relationship Some 4
    Acute respiratory distress in newborn with surfactant disorder Associated morphology False anomalie du développement Inferred relationship Some 1
    Genetic disorder of surfactant dysfunction Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital saddle nose (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Closure of coronary sinus atrial septal defect Direct morphology False anomalie du développement Inferred relationship Some 3
    Hypertelorism Associated morphology False anomalie du développement Inferred relationship Some 2
    Bilateral unstable hip Associated morphology False anomalie du développement Inferred relationship Some 4
    pollice a scatto congenito Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital malformation syndromes affecting facial appearance Associated morphology False anomalie du développement Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    Patching of coronary sinus atrial septal defect Direct morphology False anomalie du développement Inferred relationship Some 3
    Caliber persistent labial artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False anomalie du développement Inferred relationship Some 5
    Bowen-Conradi syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Cole disease Associated morphology False anomalie du développement Inferred relationship Some 4
    KBG syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital asymmetry of jaw (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Acral peeling skin syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Abnormal form of temporomandibular joint fossa Associated morphology False anomalie du développement Inferred relationship Some 1
    Abnormal form of articular disk of temporomandibular joint Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital trigger finger and trigger thumb Associated morphology False anomalie du développement Inferred relationship Some 2
    Mandibulofacial dysostosis with microcephaly Associated morphology False anomalie du développement Inferred relationship Some 1
    Concordant ventriculoarterial connection with parallel great arteries Associated morphology False anomalie du développement Inferred relationship Some 1
    Bronchial atresia with segmental pulmonary emphysema Associated morphology False anomalie du développement Inferred relationship Some 6
    Cleft of hard palate and cleft lip (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Parkes Weber syndrome Associated morphology False anomalie du développement Inferred relationship Some 5
    Cleft palate and bilateral cleft lip (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Cleft of soft palate and cleft lip (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False anomalie du développement Inferred relationship Some 4
    Cleft hard and soft palate with cleft lip Associated morphology False anomalie du développement Inferred relationship Some 4
    Lethal tight skin contracture syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Cleft of soft palate and bilateral cleft lip (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Anomaly of eye (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital valgus deformity of foot Associated morphology False anomalie du développement Inferred relationship Some 1
    Talipes calcaneovalgus Associated morphology False anomalie du développement Inferred relationship Some 3
    Talipes planovalgus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of talus Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital vertical talus (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital convex pes valgus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital varus ankle Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital valgus ankle Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital rearfoot valgus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital forefoot valgus Associated morphology False anomalie du développement Inferred relationship Some 2
    Talipes equinocavovarus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital thickening of radius Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital thickening of tibia Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital thickening of ulna Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital pulmonary arteriovenous aneurysm Associated morphology False anomalie du développement Inferred relationship Some 4

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