FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4-SNAPSHOT  |  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

    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 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Syncephalus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Escobar syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Marshall-Smith syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Male epispadias repair Direct morphology False Developmental anomaly Inferred relationship Some 2
    Multiple malformation syndrome with early overgrowth Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetus with central nervous system malformation with antenatal problem Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital iodine deficiency syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Associated morphology False Developmental anomaly Inferred relationship Some 1
    Omocephalus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Orofacial-digital syndrome III Associated morphology False Developmental anomaly Inferred relationship Some 3
    Orofacial-digital syndrome III Associated morphology False Developmental anomaly Inferred relationship Some 4
    Derodidymis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dithoracic parapagus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Myxoedematous form of cretinism Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital iodine deficiency syndrome of mixed type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dipodia Associated morphology False Developmental anomaly Inferred relationship Some 1
    A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). Associated morphology False Developmental anomaly Inferred relationship Some 1
    Grob's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Laterality sequence Associated morphology False Developmental anomaly Inferred relationship Some 1
    X-linked hydrocephalus syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Correction of congenital anorectal malformation Direct morphology False Developmental anomaly Inferred relationship Some 2
    Werner syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Polysomatous monster Associated morphology False Developmental anomaly Inferred relationship Some 1
    Segmental lymphangiomatosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Asymmetric crying face association Associated morphology False Developmental anomaly Inferred relationship Some 1
    Common atrioventricular orifice in double inlet ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    MVRCS association Associated morphology False Developmental anomaly Inferred relationship Some 1
    Neonatal osteosclerotic dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology False Developmental anomaly Inferred relationship Some 5
    Frontonasal dysplasia sequence Associated morphology False Developmental anomaly Inferred relationship Some 2
    Thoracoparacephalus Associated morphology False Developmental anomaly Inferred relationship Some 1
    A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Associated morphology False Developmental anomaly Inferred relationship Some 2
    FG syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    FG syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hecht syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oculofaciocardiodental syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Acrocephalopolysyndactyly type III (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Athyrotic hypothyroidism sequence Associated morphology False Developmental anomaly Inferred relationship Some 2
    Biemond's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital sequestration Is a False Developmental anomaly Inferred relationship Some
    Townes syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Townes syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Robin sequence Associated morphology False Developmental anomaly Inferred relationship Some 1
    Early urethral obstruction sequence Associated morphology False Developmental anomaly Inferred relationship Some 3
    Multiple malformation syndrome with senile-like appearance Associated morphology False Developmental anomaly Inferred relationship Some 1
    Kenny syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cardio-facio-cutaneous syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Diprosopus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Maternal PKU fetal effect Associated morphology False Developmental anomaly Inferred relationship Some 1
    A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dicephalus dipus dibrachius Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mulibrey nanism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Multiple malformation syndrome with limb defect as major feature Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cranial duplication Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fetal Alcohol Spectrum Disorder Associated morphology False Developmental anomaly Inferred relationship Some 1
    Femoral hypoplasia - unusual facies syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Monster with cranial anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oculodentodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pygomelus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hemicardia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Semi-lobar holoprosencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cutaneous lymphangiectasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of pupil Associated morphology False Developmental anomaly Inferred relationship Some 1
    Spondyloperipheral dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia, Strudwick type Associated morphology False Developmental anomaly Inferred relationship Some 1
    Spondylocarpotarsal synostosis syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Genitopatellar syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    RAPADILINO syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oculodento-osseous dysplasia - severe type Associated morphology False Developmental anomaly Inferred relationship Some 5
    Stickler syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Mohr syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Fragile X syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Larsen syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Johanson-Blizzard syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Jugular lymphatic obstruction sequence Associated morphology False Developmental anomaly Inferred relationship Some 2
    A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Associated morphology False Developmental anomaly Inferred relationship Some 5
    Hallermann-Streiff syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Orofacial-digital syndrome IV Associated morphology False Developmental anomaly Inferred relationship Some 5
    A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oral-facial-digital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Orofacial-digital syndrome III Associated morphology False Developmental anomaly Inferred relationship Some 5
    Schinzel-Giedion syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Chondroectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oculodentodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oculodentodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Oculodento-osseous dysplasia - mild type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oculodento-osseous dysplasia - mild type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Miller syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Acrosyndactyly of upper limb Associated morphology False Developmental anomaly Inferred relationship Some 4
    Aganglionosis of Auerbach's plexus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Atrial septal defect through coronary sinus orifice Associated morphology False Developmental anomaly Inferred relationship Some 3
    Accessory tissue on truncal valve cusp Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right posterior open bite Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left posterior open bite Associated morphology False Developmental anomaly Inferred relationship Some 2
    Agnathus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Synotus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Derencephalus Associated morphology False Developmental anomaly Inferred relationship Some 3

    Start Previous Page 55 of 73 Next End

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start