FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

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
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

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

    Start Previous Page 62 of 73 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start