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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

    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
    Cheilognathoschisis Associated morphology False Developmental anomaly Inferred relationship Some 6
    Congenital chorioretinal degeneration Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cardiac septal defects Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital atresia Is a False Developmental anomaly Inferred relationship Some
    Fetal hydantoin syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomalies of elbow and upper arm Associated morphology False Developmental anomaly Inferred relationship Some 3
    Fetal trimethadione syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ambiguous genitalia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cyst of mesonephric duct (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Abnormal plantar creases Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital eventration of left crus of diaphragm (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Preauricular sinus and fistula Associated morphology False Developmental anomaly Inferred relationship Some 7
    Preauricular sinus and fistula Associated morphology False Developmental anomaly Inferred relationship Some 8
    Female pseudohermaphroditism Associated morphology False Developmental anomaly Inferred relationship Some 4
    Accessory sternebral ossification site Associated morphology False Developmental anomaly Inferred relationship Some 4
    Patent ductus venosus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Streak gonad Associated morphology False Developmental anomaly Inferred relationship Some 2
    Reifenstein syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hydatid cyst of Morgagni - female Associated morphology False Developmental anomaly Inferred relationship Some 2
    Male pseudohermaphroditism Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cyst of hydatid of Morgagni Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of uterus and cervix Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal course of aortic arch and descending aorta (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Vitellointestinal band Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of digestive system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mesonephric cyst Associated morphology False Developmental anomaly Inferred relationship Some 2
    Wolffian duct cyst - male Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ovotestis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False Developmental anomaly Inferred relationship Some 4
    Cervical, vaginal and external female genital anomalies Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malformation of genital organs Associated morphology False Developmental anomaly Inferred relationship Some 2
    Closed ductus venosus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Genitourinary congenital anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cyst of embryonic remnant - male Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital eventration of right crus of diaphragm Associated morphology False Developmental anomaly Inferred relationship Some 5
    Persistent urogenital sinus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ductus venosus abnormality Associated morphology False Developmental anomaly Inferred relationship Some 2
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology False Developmental anomaly Inferred relationship Some 4
    False hermaphrodite Associated morphology False Developmental anomaly Inferred relationship Some 2
    Indeterminate sex and pseudohermaphroditism Associated morphology False Developmental anomaly Inferred relationship Some 2
    Auriculo-condylar syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Vascular loops of inner ear Associated morphology False Developmental anomaly Inferred relationship Some 3
    Vascular malformation of inner ear Associated morphology False Developmental anomaly Inferred relationship Some 3
    Pseudohermaphroditism Associated morphology False Developmental anomaly Inferred relationship Some 3
    Duhamel operation, abdominoperineal pull-through Direct morphology False Developmental anomaly Inferred relationship Some 4
    Fetal cocaine syndrome (disorder) Associated morphology False Developmental anomaly 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 Developmental anomaly Inferred relationship Some 3
    Cystic hygroma (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Schwartz-Jampel syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Simple lymphangioma Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cephalodiprosopus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Monocephalus tripus dibrachius Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malformation of the eyebrow Associated morphology False Developmental anomaly Inferred relationship Some 2
    Capillary-venous-lymphatic malformation Associated morphology False Developmental anomaly Inferred relationship Some 5
    Capillary-venous-lymphatic malformation Associated morphology False Developmental anomaly Inferred relationship Some 6
    Endemic congenital iodine deficiency syndrome of myxedematous type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Stickler syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Supernumerary structure Is a False Developmental anomaly Inferred relationship Some
    Radial aplasia-thrombocytopenia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pentalogy of Cantrell Associated morphology False Developmental anomaly Inferred relationship Some 1
    Male subcoronal hypospadias Associated morphology False Developmental anomaly Inferred relationship Some 2
    Meckel-Gruber syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Aarskog syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Smith-Lemli-Opitz syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Russell-Silver syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Multiple malformation syndrome, moderate short stature, facial Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cephalothoracopagus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Primary ciliary dyskinesia due to transposition of ciliary microtubules Associated morphology False Developmental anomaly Inferred relationship Some 1
    A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lobar holoprosencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fetal alcohol syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Myhre syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Deradelphus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Malformation sequence Associated morphology False Developmental anomaly Inferred relationship Some 1
    Rehbein procedure Direct morphology False Developmental anomaly Inferred relationship Some 2
    Allemann's syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Arteriovenous-lymphatic malformation Associated morphology False Developmental anomaly Inferred relationship Some 5
    Mohr syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Mohr syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Miller syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Dicephalus tripus tribrachius Associated morphology False Developmental anomaly Inferred relationship Some 2
    Katadidymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Penoscrotal hypospadias (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Marinesco-Sjögren syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Weaver syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal anencephaly (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Acrocephalosyndactyly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Desmiognathus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fetal minoxidil syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pena-Shokeir phenotype Associated morphology False Developmental anomaly Inferred relationship Some 1
    Kundrat's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lymphangiectasia with chylous reflux Associated morphology False Developmental anomaly Inferred relationship Some 2
    Single monster, specified type Associated morphology False Developmental anomaly Inferred relationship Some 1
    Sirenomelia sequence Associated morphology False Developmental anomaly Inferred relationship Some 1
    Persistent omphalomesenteric artery Associated morphology False Developmental anomaly Inferred relationship Some 4
    A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Associated morphology False Developmental anomaly Inferred relationship Some 1

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