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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
    Congenital diaphragmatic hernia Associated morphology False anomalie du développement Inferred relationship Some 5
    Ullrich congenital muscular dystrophy Associated morphology False anomalie du développement Inferred relationship Some 3
    Situs inversus with levocardia Associated morphology False anomalie du développement Inferred relationship Some 3
    Brachypellic pelvis Associated morphology False anomalie du développement 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 anomalie du développement Inferred relationship Some 1
    Posterior fossa arachnoid cyst (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Incomplete formation of bony cochlea Associated morphology False anomalie du développement Inferred relationship Some 2
    Cystic malformation of posterior fossa (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital hemihypertrophy Is a False anomalie du développement Inferred relationship Some
    Congenital anomaly of tarsal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of spleen Associated morphology False anomalie du développement Inferred relationship Some 2
    Preaxial polydactyly of toe Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of metatarsal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Vitelline duct polyp (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Maldescent of testis, bilateral Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of spine Associated morphology False anomalie du développement Inferred relationship Some 1
    Extrapulmonary subpleural pulmonary sequestration (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of cricoid cartilage Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital pharyngeal polyp Associated morphology False anomalie du développement Inferred relationship Some 2
    Cleft hand with syndactyly Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital bent hyoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of radius Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of endocrine ovary (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Incomplete ossification of vomer Associated morphology False anomalie du développement Inferred relationship Some 4
    Intralobar bronchopulmonary sequestration Associated morphology False anomalie du développement Inferred relationship Some 2
    Hexadactyly Associated morphology False anomalie du développement Inferred relationship Some 2
    Supernumerary liver lobe Associated morphology False anomalie du développement Inferred relationship Some 2
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False anomalie du développement Inferred relationship Some 7
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False anomalie du développement Inferred relationship Some 8
    Congenital macrocheilia Associated morphology False anomalie du développement Inferred relationship Some 3
    Leri-Weill dyschondrosteosis Associated morphology False anomalie du développement Inferred relationship Some 2
    22q11 microdeletion with complete DiGeorge sequence Associated morphology False anomalie du développement Inferred relationship Some 1
    Decreased anogenital distance Associated morphology False anomalie du développement Inferred relationship Some 2
    Transverse deficiency of hand Associated morphology False anomalie du développement Inferred relationship Some 2
    Branchial cleft sinus Associated morphology False anomalie du développement Inferred relationship Some 2
    Pseudo-polycoria Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital splenomegaly Associated morphology False anomalie du développement Inferred relationship Some 1
    Lack of ossification of centrum of sacral vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Misplaced ear Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital branched rib cartilage Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital bronchial stenosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Overgrowth of upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital hypopigmentation of choroid Associated morphology False anomalie du développement Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False anomalie du développement Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of perineum Associated morphology False anomalie du développement Inferred relationship Some 2
    hydroméningocèle crânienne congénitale Associated morphology False anomalie du développement Inferred relationship Some 5
    hydroméningocèle crânienne congénitale Associated morphology False anomalie du développement Inferred relationship Some 6
    Radial polydactyly Wassel 3 Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital pseudoarthrosis of tibia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of humerus Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of ilium Associated morphology False anomalie du développement Inferred relationship Some 2
    Reduction anomaly of hypothalamus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital fusion of labia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cyst of ovary Associated morphology False anomalie du développement Inferred relationship Some 2
    Tongue absent Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of body wall Associated morphology False anomalie du développement Inferred relationship Some 3
    Duplication of whole upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of liver Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital palato-oesophageal incoordination Associated morphology False anomalie du développement Inferred relationship Some 2
    Branchial cleft cyst Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of lower respiratory system Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital humeral varus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cleft of thymus Associated morphology False anomalie du développement Inferred relationship Some 2
    Floating gallbladder Associated morphology False anomalie du développement Inferred relationship Some 2
    Subarterial ventricular septal defect (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital porencephaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of posterior segment of eye Associated morphology False anomalie du développement Inferred relationship Some 2
    Fordyce spots of buccal mucosa (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Clinodactyly, with no delta phalanx Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of trachea Associated morphology False anomalie du développement Inferred relationship Some 2
    Membranous ventricular septum defect Associated morphology False anomalie du développement Inferred relationship Some 3
    Multi-core congenital myopathy Associated morphology False anomalie du développement Inferred relationship Some 2
    Rudimentary digit (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Overgrowth of partial upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital hypomyelinating neuropathy Associated morphology False anomalie du développement Inferred relationship Some 2
    Branchial vestige Associated morphology False anomalie du développement Inferred relationship Some 2
    Holoanencephaly (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Seckel syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    Thoracic spina bifida with hydrocephalus Associated morphology False anomalie du développement Inferred relationship Some 4
    Thoracic spina bifida with hydrocephalus Associated morphology False anomalie du développement Inferred relationship Some 5
    Muscular ventricular septal defect in outlet septum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Residual ventricular septal defect (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Acquired excessive restriction of ventricular septal defect Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of arch of thoracic vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Osteopetrosis with renal tubular acidosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Genu recurvatum and long leg bone bowing Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital diverticulum of bronchus Associated morphology False anomalie du développement Inferred relationship Some 2
    Female pseudohermaphroditism Associated morphology False anomalie du développement Inferred relationship Some 3
    Discontinuous rib Associated morphology False anomalie du développement Inferred relationship Some 2
    Mesatipellic pelvis Associated morphology False anomalie du développement Inferred relationship Some 2
    Ear osseous meatus atresia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of optic disc Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of duodenum Associated morphology False anomalie du développement Inferred relationship Some 2
    Neurofibromatosis type 1 Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of body cavity Associated morphology False anomalie du développement Inferred relationship Some 2
    Fetal malformation of central nervous system affecting obstetrical care Associated morphology False anomalie du développement Inferred relationship Some 2
    Duplication of upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of penis Associated morphology False anomalie du développement Inferred relationship Some 3

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