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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
    Congenital pulmonary arteriovenous aneurysm Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Neurofibromatosis Noonan syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital thickening of tarsal bone Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Fetal varicella syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Preauricular dimple Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Nicolaides-Baraitser syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oto-onycho-peroneal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Oto-onycho-peroneal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Oto-onycho-peroneal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Oto-onycho-peroneal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 8
    Embryopathy caused by phenobarbital Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    McDonough syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Delayed membranous cranial ossification Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Ophthalmomandibulomelic dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Ophthalmomandibulomelic dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Autosomal recessive distal osteolysis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Pituitary stalk interruption syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Lissencephaly type 1 due to doublecortin gene mutation Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Acrocallosal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Autosomal recessive distal osteolysis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Acrocallosal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Glomuvenous malformation Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Waardenburg Shah syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 8
    Prominent glabella with microcephaly and hypogenitalism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Goniodysgenesis with intellectual disability and short stature syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Phocomelia Schinzel type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Diabetic embryopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    X-linked retinal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Neurofibromatosis Noonan syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Isolated lissencephaly type 1 without known genetic defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Craniofrontonasal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Craniotelencephalic dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Acromelic frontonasal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Embryofetopathy caused by indomethacin Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Mirror polydactyly, vertebral segmentation and limb defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Lethal arthrogryposis co-occurrent with anterior horn cell disease Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Desmin related myopathy with Mallory body-like inclusions Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Ischio-vertebral syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Deafness craniofacial syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Cerebellar ataxia co-occurrent with ectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Ameloonychohypohidrotic syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Mesomelic dysplasia with cleft palate and camptodactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 9
    Mesomelic dysplasia with cleft palate and camptodactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 10
    Crane Heise syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Crane Heise syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Seaver Cassidy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Seaver Cassidy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Seaver Cassidy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Cleft lip and cleft palate with ectodermal dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital ptosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Ectodermal dysplasia with natal teeth Turnpenny type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital myogenic ptosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Familial isolated arrhythmogenic right ventricular dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Pseudoaminopterin syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Pseudoaminopterin syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Fetal diethylstilbestrol syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Maxillonasal dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Cleft palate and cleft lip with deafness and sacral lipoma syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 10
    Cataract with aberrant oral frenula and growth delay syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Frontofacionasal dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, group B Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Non-neurologic xeroderma pigmentosum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Pigmented xerodermoid Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, group C Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, group G Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, group F Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, group A Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, group E Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, group D Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Xeroderma pigmentosum, variant form Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Short stature with craniofacial anomalies and genital hypoplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Holoprosencephaly and postaxial polydactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Fibulo-ulnar hypoplasia and renal anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hypospadias and intellectual disability syndrome Goldblatt type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Ichthyosis cheek eyebrow syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ichthyosis cheek eyebrow syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Limb body wall complex Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Macrocephaly with spastic paraplegia and dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Upper limb defect with eye and ear abnormalities syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Upper limb defect with eye and ear abnormalities syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Mullerian duct and limb anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Mullerian duct and limb anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Odontoma dysphagia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Short stature with valvular heart disease and characteristic facies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Pili torti with developmental delay and neurological abnormality syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Steinfeld syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Steinfeld syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Deafness with epiphyseal dysplasia and short stature syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Deafness with epiphyseal dysplasia and short stature syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Intellectual disability and short stature with hand contracture and genital anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Potter sequence cleft lip and palate cardiopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2

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