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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    190336012 Developmental malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    190337015 Developmental defect en Synonym Active Entire term case insensitive SNOMED CT core module
    190338013 Dysgenesis en Synonym Active Entire term case insensitive SNOMED CT core module
    190339017 Anomalous formation en Synonym Active Entire term case insensitive SNOMED CT core module
    190340015 Abnormal development en Synonym Active Entire term case insensitive SNOMED CT core module
    190341016 Malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module
    1208681014 Developmental abnormality en Synonym Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Deafness, vitiligo, achalasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Congenital anomaly of bone of shoulder girdle Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital mandibular asymmetry Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital maxillary asymmetry Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Developmental anomaly of root of tooth Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Fetal genitourinary abnormality Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Fetal genitourinary abnormality Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Malformation of central nervous system of fetus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Malformation of central nervous system of fetus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Juvenile osteochondrosis of right tarsal navicular Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Juvenile osteochondrosis of left tarsal navicular Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Juvenile osteochondrosis of right second metatarsal Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Juvenile osteochondrosis of left second metatarsal Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital conductive hearing loss Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital trigger thumb of bilateral hands Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital trigger thumb of bilateral hands Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital trigger finger of right hand Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital trigger finger of left hand Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Developmental anomaly of tooth Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Developmental anomaly of periodontal tissue Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Male pseudohermaphroditism due to 5-alpha-reductase deficiency Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Retinitis pigmentosa-deafness syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Retinitis pigmentosa-deafness-ataxia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Gorlin-Chaudhry-Moss syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oculo-palato-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oculo-palato-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Usher syndrome type 1 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Usher syndrome type 2 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Floating-Harbor syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Kabuki make-up syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Solitary median maxillary central incisor syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Correction of congenital deformity of hand Direct morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Correction of mirror hand Direct morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Repositioning of thumb for cleft hand Direct morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Realignment of congenital ulnar drift Direct morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Pericarditis secondary to Mulibrey nanism Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital anomaly of zonula Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of great vessel Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Common arterial trunk with aortic dominance Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Hereditary skin peeling syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 12
    Congenital myopathy with myasthenic-like onset Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Connective tissue disorder due to lysyl hydroxylase-3 deficiency Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Craniofaciofrontodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital patent ductus arteriosus aneurysm Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Fetal akinesia, cerebral and retinal hemorrhage syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cerebrofacioarticular syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital muscular dystrophy with hyperlaxity Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ichthyosis prematurity syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Lethal multiple pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    X-linked lethal multiple pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Lethal multiple pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Velofacioskeletal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital lymphangioma of larynx Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    46,XY ovotesticular disorder of sex development Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Familial multiple nevi flammei Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Familial vesicoureteral reflux Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Finnish upper limb onset distal myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Wiedemann Steiner syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Intellectual disability, alacrima, achalasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Intellectual disability Wolff type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Dislocation of hip and facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Autosomal recessive exfoliative ichthyosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Kelch like family member 9 related early-onset distal myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Malan overgrowth syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oculoauricular syndrome Schorderet type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Oculomaxillofacial dysostosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Mohr syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oral-facial-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Orofacial-digital syndrome III Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Orofacial-digital syndrome IV Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 9 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 10 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 5 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 8 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 1 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Otofaciocervical syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Renal hepatic pancreatic dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Oculopharyngodistal myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Familial isolated trichomegaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Cylindrical spirals myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1

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    This concept is not in any reference sets

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