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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
    Congenital malformation of tongue, mouth and pharynx Associated morphology False Developmental anomaly Inferred relationship Some 3
    Royer's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dicheirus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Parasitic twin of asymmetrical conjoined twins (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital dysplasia Is a False Developmental anomaly Inferred relationship Some
    Lymphatic malformation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Posterior sagittal anorectoplasty Direct morphology False Developmental anomaly Inferred relationship Some 3
    Opodidymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lowe syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malformation of ovaries and fallopian tubes Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital malformation of ovaries and fallopian tubes Associated morphology False Developmental anomaly Inferred relationship Some 5
    Grafting of palate for cleft palate repair (procedure) Direct morphology False Developmental anomaly Inferred relationship Some 3
    Removal of colorectal septum Direct morphology False Developmental anomaly Inferred relationship Some 4
    Removal of colorectal septum Direct morphology False Developmental anomaly Inferred relationship Some 5
    Wildervanck syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal or neonatal effect of placental or breast transfer of alcohol Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal warfarin syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lymphangioma circumscriptum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Orofacial-digital syndrome IV Associated morphology False Developmental anomaly Inferred relationship Some 3
    Orofacial-digital syndrome IV Associated morphology False Developmental anomaly Inferred relationship Some 4
    Pena-Shokeir syndrome type I (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malformation syndromes with metabolic disturbances Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal benzodiazepine syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dicephalus dipus tribrachius Associated morphology False Developmental anomaly Inferred relationship Some 2
    Marshall syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Alobar holoprosencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Omphaloangiopagus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Holoprosencephaly sequence Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bitemporal scars with abnormal eyelashes Associated morphology False Developmental anomaly Inferred relationship Some 1
    Atretocephalus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Moore-Federman syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malformation caused by cytotoxic agents (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Leprechaunism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malformation syndromes associated with short stature Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal methyl mercury syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Bardet-Biedl syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dipygus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal captopril/enalapril syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Exstrophy of urinary bladder sequence Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital failure of fusion Is a False Developmental anomaly Inferred relationship Some
    Congenital septation Is a False Developmental anomaly Inferred relationship Some
    Bilateral right-sidedness sequence Associated morphology False Developmental anomaly Inferred relationship Some 2
    Rutland ciliary disorientation syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Anencephalus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lymphangiomatosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital lymphangioma Associated morphology False Developmental anomaly Inferred relationship Some 2
    Blomstrand dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Double artery Associated morphology False Developmental anomaly Inferred relationship Some 2
    Retinoic acid embryopathy Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dysmorphism Associated morphology False Developmental anomaly Inferred relationship Some 1
    Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lymphangiectases Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cohen syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    First arch syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Neurologic form of cretinism Associated morphology False Developmental anomaly Inferred relationship Some 1
    Sporadic cretinism Associated morphology False Developmental anomaly Inferred relationship Some 1
    Levy-Hollister syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal misoprostol syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital hypothyroidism with diffuse goitre Associated morphology False Developmental anomaly Inferred relationship Some 1
    CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ochoa syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cranio-orbito-ocular dysraphia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hemianencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Noonan's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Young's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    V-Y anoplasty Direct morphology False Developmental anomaly Inferred relationship Some 3
    A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Associated morphology False Developmental anomaly Inferred relationship Some 4
    Klippel's disease Associated morphology False Developmental anomaly Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Langer-Giedion syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hyperthermia-induced defect Associated morphology False Developmental anomaly Inferred relationship Some 1
    Arterial malformation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anakatadidymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Multiple malformation syndrome with facial defects as major feature Associated morphology False Developmental anomaly Inferred relationship Some 1
    Schwartz syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lethal multiple pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal or neonatal effect of maternal alcohol addiction Associated morphology False Developmental anomaly Inferred relationship Some 1
    Percutaneous transluminal ablation of congenital heart malformation Direct morphology False Developmental anomaly Inferred relationship Some 2
    Oral-facial-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oral-facial-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ethmocephalus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ataxia-telangiectasia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Aase syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cardio-acral-facial syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital protrusion Is a False Developmental anomaly Inferred relationship Some
    Malformation association Associated morphology False Developmental anomaly Inferred relationship Some 1
    Smith-Magenis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Diprosopus tetrophthalmus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Rubinstein-Taybi syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Decompression of imperforate anus Direct morphology False Developmental anomaly Inferred relationship Some 2
    Cavernous lymphangioma of skin Associated morphology False Developmental anomaly Inferred relationship Some 4
    Laurence-Moon syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Immotile cilia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malformation syndrome due to known exogenous cause Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cryptodidymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Acrocephalopolysyndactyly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Warburg syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal or neonatal effect of maternal use of alcohol Associated morphology False Developmental anomaly Inferred relationship Some 1
    Autositic twin of asymmetrical conjoined twins (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Syncephalus Associated morphology False Developmental anomaly Inferred relationship Some 1

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