FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-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
    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 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Incomplete ossification of tympanic anulus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital hepatic fibrosis Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital tracheobronchomegaly Associated morphology False anomalie du développement Inferred relationship Some 3
    Microglossia Associated morphology False anomalie du développement Inferred relationship Some 2
    Occult spinal dysraphism sequence Associated morphology False anomalie du développement Inferred relationship Some 1
    Occult spinal dysraphism sequence Associated morphology False anomalie du développement Inferred relationship Some 5
    Amyelia Associated morphology False anomalie du développement Inferred relationship Some 5
    Congenital macular changes Associated morphology False anomalie du développement Inferred relationship Some 2
    Sporadic megalencephaly Associated morphology False anomalie du développement Inferred relationship Some 1
    Nemaline myopathy, late onset type Associated morphology False anomalie du développement Inferred relationship Some 2
    Ear pit syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Malformation of throat Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of pelvic bones Associated morphology False anomalie du développement Inferred relationship Some 2
    Encephalo-ophthalmic dysplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Ji muscular dystrophy Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of vas deferens Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital abnormality of hepatic vein (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital syringomyelia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Western type of congenital muscular dystrophy Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital malposition of metacarpal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Hereditary myopathy limited to females Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital abnormal vertical shortness of eyelids Associated morphology False anomalie du développement Inferred relationship Some 2
    Doubly committed subarterial ventricular septal defect Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of talus Associated morphology False anomalie du développement Inferred relationship Some 2
    Microgyria Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital aphakia Associated morphology False anomalie du développement Inferred relationship Some 2
    Atelomyelia Associated morphology False anomalie du développement Inferred relationship Some 4
    Hepatomphalocele Associated morphology False anomalie du développement Inferred relationship Some 6
    Camptodactyly-little finger (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Branchial cleft external sinus Associated morphology False anomalie du développement Inferred relationship Some 2
    Ectopic pancreas in duodenum Associated morphology False anomalie du développement Inferred relationship Some 5
    Congenital aplasia of inner ear Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital muscular hypertrophy-cerebral syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Supernumerary centrum of lumbar vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Cryptophthalmos syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Spinobulbar atrophy Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of neck Associated morphology False anomalie du développement Inferred relationship Some 2
    A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Associated morphology False anomalie du développement Inferred relationship Some 4
    Anomalies of cerebrum Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalies of pancreas Associated morphology False anomalie du développement Inferred relationship Some 3
    Duplication of fibula Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of spleen Associated morphology False anomalie du développement Inferred relationship Some 2
    Rieger eye malformation sequence Associated morphology False anomalie du développement Inferred relationship Some 2
    Embryotoxon Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital hypoplasia of eye bulge Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital bent ilium Associated morphology False anomalie du développement Inferred relationship Some 2
    hydroméningocèle Associated morphology False anomalie du développement Inferred relationship Some 3
    Complete phocomelia of upper limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Talipomanus Associated morphology False anomalie du développement Inferred relationship Some 2
    Central polydactyly of fingers Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of lung Associated morphology False anomalie du développement Inferred relationship Some 2
    Dwarf pelvis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of eye Associated morphology False anomalie du développement Inferred relationship Some 2
    Focal nodular hypoplasia of liver Associated morphology False anomalie du développement Inferred relationship Some 2
    Radial polydactyly Wassel 1 Associated morphology False anomalie du développement Inferred relationship Some 2
    Paraspadias Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of ulna (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Cleft cartilaginous centrum of thoracic vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Nemaline myopathy Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cleft thyroid cartilage Associated morphology False anomalie du développement Inferred relationship Some 2
    Benign congenital muscular dystrophy with finger flexion contractures Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital disorders of eye and eyelid movements Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital total cataract Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital anomaly of rib cartilage Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of peripheral nerve Associated morphology False anomalie du développement Inferred relationship Some 2
    Lumbar spina bifida with hydrocephalus Associated morphology False anomalie du développement Inferred relationship Some 5
    Lumbar spina bifida with hydrocephalus Associated morphology False anomalie du développement Inferred relationship Some 6
    Congenital abnormality of systemic vein (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    syndrome de malformations de la fosse postérieure, hémangiomes capillaires, anomalies de l'anatomie des artères cérébrales, coarctation de l'aorte et autres malformations cardiaques, anomalies oculaires et anomalies sternales Associated morphology False anomalie du développement Inferred relationship Some 3
    Neurofibromatosis type 2 Associated morphology False anomalie du développement Inferred relationship Some 3
    Abnormal lung lobation Associated morphology False anomalie du développement Inferred relationship Some 2
    Bifid epiglottis Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of lacrimal gland Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital laryngomalacia Associated morphology False anomalie du développement Inferred relationship Some 3
    Incomplete ossification of arch of sacral vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Polydactyly of thumb Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of abdominal wall Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anterior polar cataract Associated morphology False anomalie du développement Inferred relationship Some 1
    Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology False anomalie du développement Inferred relationship Some 3
    Blepharophimosis syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Beckwith-Wiedemann syndrome Associated morphology False anomalie du développement Inferred relationship Some 7
    Incomplete ossification of centrum of lumbar vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Pelvis plana Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cystic disease of liver Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital diverticulum of bile duct Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital coloboma of optic disc Associated morphology False anomalie du développement Inferred relationship Some 4
    Distal radioulnar synostosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Familial megalencephaly Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital contracted pelvis Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital abnormal long growth of bile duct Associated morphology False anomalie du développement Inferred relationship Some 2
    Iniencephaly Associated morphology False anomalie du développement Inferred relationship Some 3
    Iniencephaly Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of trachea Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital thickening of talus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of metatarsal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Failure of differentiation of bones of forearm Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of azygos vein Associated morphology False anomalie du développement Inferred relationship Some 2
    Spina bifida of cervical region Associated morphology False anomalie du développement Inferred relationship Some 3
    Spina bifida of cervical region Associated morphology False anomalie du développement Inferred relationship Some 4

    Start Previous Page 30 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