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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
    Bilateral congenital deformity of lower limbs Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilateral congenital deformity fingers Associated morphology False Developmental anomaly Inferred relationship Some 1
    Bilateral congenital deformity fingers Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital deformity of right finger Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital deformity of right upper limb (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital deformity of left finger Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital deformity of right lower limb Associated morphology False Developmental anomaly Inferred relationship Some 1
    Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of cardiac chamber (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    HIVEP2-related intellectual disability Associated morphology False Developmental anomaly Inferred relationship Some 2
    Alstrom syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Angioosteohypotrophic syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Microcephalic primordial dwarfism Montreal type Associated morphology False Developmental anomaly Inferred relationship Some 1
    Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Axial mesodermal dysplasia spectrum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Incomplete ossification of ilium Associated morphology False Developmental anomaly Inferred relationship Some 1
    Incomplete ossification of ischium Associated morphology False Developmental anomaly Inferred relationship Some 1
    Incomplete ossification of pubis Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lack of ossification of pubis Associated morphology False Developmental anomaly Inferred relationship Some 1
    Incomplete ossification Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lack of ossification of ischium Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital left vesicoureterorenal reflux Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital left vesicoureterorenal reflux Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital right vesicoureterorenal reflux Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital right vesicoureterorenal reflux Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hartsfield syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Nijmegen breakage syndrome-like disorder (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Neuhauser anomaly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Trichoodontoonychial dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 1
    Trichoodontoonychial dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Trichoodontoonychial dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Diencephalic mesencephalic junction dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Diencephalic mesencephalic junction dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Trichodysplasia xeroderma syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hypomyelination neuropathy arthrogryposis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Radio-renal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital occlusion of anus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Otopalatodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Otopalatodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Hereditary benign acanthosis nigricans Associated morphology False Developmental anomaly Inferred relationship Some 1
    Darier disease Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acral Darier's disease (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Palmar pitting due to Darier disease Associated morphology False Developmental anomaly Inferred relationship Some 2
    22q11.2 deletion syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital instability of right hip joint Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acrokeratosis verruciformis of Darier disease (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital instability of left hip joint Associated morphology False Developmental anomaly Inferred relationship Some 2
    Flexural Darier's disease (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hypertrophic Darier's disease (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Linear/nevoid/zosteriform Darier's disease (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hereditary benign acanthosis nigricans with insulin resistance Associated morphology False Developmental anomaly Inferred relationship Some 1
    Lipomeningocele Associated morphology False Developmental anomaly Inferred relationship Some 3
    Anterior crossbite with destruction of oral mucosa Associated morphology False Developmental anomaly Inferred relationship Some 3
    Primary tethered cord syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Primary tethered cord syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    14q22q23 microdeletion syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Jawad syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    14q22q23 microdeletion syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Jawad syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False Developmental anomaly Inferred relationship Some 2
    Repair of claw toe (procedure) Direct morphology False Developmental anomaly Inferred relationship Some 2
    Correction of congenital deformity of hindfoot (procedure) Direct morphology False Developmental anomaly Inferred relationship Some 2
    Primary correction of congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 2
    Release of pantalar joints for correction congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 2
    McCauley operation Direct morphology False Developmental anomaly Inferred relationship Some 2
    Soft tissue release for correction of congenital deformity of hindfoot Direct morphology False Developmental anomaly Inferred relationship Some 3
    Posterior release of joints of foot for correction of congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 1
    Posteromedial release of calcaneotalar equinovarus Direct morphology False Developmental anomaly Inferred relationship Some 2
    Lateral release for congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 2
    Correction of congenital vertical talus Direct morphology False Developmental anomaly Inferred relationship Some 2
    Release of subtalar joint for correction congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 1
    Correction of clubfoot (procedure) Direct morphology False Developmental anomaly Inferred relationship Some 1
    Tendon transfer and arthrodesis to correct claw toe Direct morphology False Developmental anomaly Inferred relationship Some 4
    Turco operation Direct morphology False Developmental anomaly Inferred relationship Some 2
    Osteotomy of body of os calcis for correction congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 3
    Separation of tarsal coalition Direct morphology False Developmental anomaly Inferred relationship Some 2
    Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis Direct morphology False Developmental anomaly Inferred relationship Some 3
    Triple arthrodesis for correction of congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 4
    Primary correction of clubfoot (procedure) Direct morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Medial release of joints of foot for correction of congenital deformity of foot Direct morphology False Developmental anomaly Inferred relationship Some 2
    Dilwyn Evans procedure for correction of clubfoot Direct morphology False Developmental anomaly Inferred relationship Some 2
    Gelman operation Direct morphology False Developmental anomaly Inferred relationship Some 2
    Intrauterine fetal defect correction Direct morphology False Developmental anomaly Inferred relationship Some 1
    Reduction of congenital hip dislocation by traction Direct morphology False Developmental anomaly Inferred relationship Some 3
    Juvenile osteochondrosis of left tarsus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Juvenile osteochondrosis of bilateral tarsals (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Juvenile osteochondrosis of right tarsus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Radialization correction for radial club hand Direct morphology False Developmental anomaly Inferred relationship Some 3
    Correction of congenital deformity of forearm (procedure) Direct morphology False Developmental anomaly Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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