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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 (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    SCARF syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Deafness, vitiligo, achalasia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 7
    Congenital anomaly of bone of shoulder girdle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital mandibular asymmetry Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital maxillary asymmetry Associated morphology False Developmental anomaly Inferred relationship Some 1
    Developmental anomaly of root of tooth (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal genitourinary abnormality (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fetal genitourinary abnormality (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Malformation of central nervous system of fetus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Malformation of central nervous system of fetus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Juvenile osteochondrosis of right tarsal navicular (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Juvenile osteochondrosis of left tarsal navicular Associated morphology False Developmental anomaly Inferred relationship Some 5
    Juvenile osteochondrosis of right second metatarsal Associated morphology False Developmental anomaly Inferred relationship Some 4
    Juvenile osteochondrosis of left second metatarsal Associated morphology False Developmental anomaly Inferred relationship Some 5
    Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital conductive hearing loss Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital trigger thumb of bilateral hands Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital trigger thumb of bilateral hands Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital trigger finger of right hand Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital trigger finger of left hand (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Developmental anomaly of tooth Associated morphology False Developmental anomaly Inferred relationship Some 1
    Developmental anomaly of periodontal tissue Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pseudovaginal perineoscrotal hypospadias Associated morphology False Developmental anomaly Inferred relationship Some 4
    Retinitis pigmentosa-deafness syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Retinitis pigmentosa-deafness-ataxia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Gorlin-Chaudhry-Moss syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oculo-palato-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oculo-palato-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Usher syndrome type 1 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Usher syndrome type 2 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Associated morphology False Developmental anomaly Inferred relationship Some 1
    Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Associated morphology False Developmental anomaly Inferred relationship Some 4
    Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Associated morphology False Developmental anomaly Inferred relationship Some 5
    Floating-Harbour syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Kabuki make-up syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Solitary median maxillary central incisor syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Correction of congenital deformity of hand Direct morphology False Developmental anomaly Inferred relationship Some 2
    Correction of mirror hand Direct morphology False Developmental anomaly Inferred relationship Some 2
    Repositioning of thumb for cleft hand Direct morphology False Developmental anomaly Inferred relationship Some 3
    Realignment of congenital ulnar drift Direct morphology False Developmental anomaly Inferred relationship Some 2
    Pericarditis secondary to Mulibrey nanism Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of zonula Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of great vessel Associated morphology False Developmental anomaly Inferred relationship Some 1
    Common arterial trunk with aortic dominance (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Hereditary skin peeling syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Associated morphology False Developmental anomaly Inferred relationship Some 12
    Congenital myopathy with myasthenic-like onset (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Connective tissue disorder due to lysyl hydroxylase-3 deficiency Associated morphology False Developmental anomaly Inferred relationship Some 2
    Craniofaciofrontodigital syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital patent ductus arteriosus aneurysm Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lethal congenital contracture syndrome type 5 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cerebrofacioarticular syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital muscular dystrophy with hyperlaxity (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ichthyosis prematurity syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lethal multiple pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    X-linked lethal multiple pterygium syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lethal multiple pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Velofacioskeletal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Primary laryngeal lymphangioma Associated morphology False Developmental anomaly Inferred relationship Some 2
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    46,XY ovotesticular disorder of sex development Associated morphology False Developmental anomaly Inferred relationship Some 1
    Familial multiple nevi flammei (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Familial vesicoureteral reflux (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Finnish upper limb onset distal myopathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Wiedemann Steiner syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Intellectual disability, alacrima, achalasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Intellectual disability Wolff type Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dislocation of hip and facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal recessive exfoliative ichthyosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    KLHL9-related early-onset distal myopathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Malan overgrowth syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oculoauricular syndrome Schorderet type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oculomaxillofacial dysostosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mohr syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oral-facial-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Orofacial-digital syndrome III Associated morphology False Developmental anomaly Inferred relationship Some 2
    Orofacial-digital syndrome IV Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 9 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oro-facial digital syndrome type 10 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 5 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 8 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 1 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Some 7
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Some 6
    Otofaciocervical syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Some 6
    Renal hepatic pancreatic dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oculopharyngodistal myopathy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Familial isolated trichomegaly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cylindrical spirals myopathy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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