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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 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Associated morphology False Developmental anomaly Inferred relationship Some 1
    A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Associated morphology False Developmental anomaly Inferred relationship Some 5
    Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Associated morphology False Developmental anomaly Inferred relationship Some 1
    Bloom syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Developmental anomaly Inferred relationship Some 2
    Trichorhinophalangeal dysplasia type I Associated morphology False Developmental anomaly Inferred relationship Some 3
    VACTEL syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Larsen syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Single stage epispadias repair Direct morphology False Developmental anomaly Inferred relationship Some 2
    Multiple malformation syndrome, small stature, without skeletal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 1
    Endemic cretinism Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pygodidymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital transposition of stomach Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malformation Associated morphology False Developmental anomaly Inferred relationship Some 1
    Nager syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Nager syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Multiple malformation syndrome due to non-infectious environmental agents Associated morphology False Developmental anomaly Inferred relationship Some 1
    Osteochondrodysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Second stage of two-stage epispadias repair Direct morphology False Developmental anomaly Inferred relationship Some 2
    Anencephalus and similar anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anadidymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False Developmental anomaly Inferred relationship Some 3
    Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum Direct morphology False Developmental anomaly Inferred relationship Some 4
    Agnathus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Monster Associated morphology False Developmental anomaly Inferred relationship Some 1
    Single monster Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ruvalcaba-Myhre syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ruvalcaba-Myhre syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    First stage of two-stage epispadias repair Direct morphology False Developmental anomaly Inferred relationship Some 2
    Ruvalcaba syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ruvalcaba syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital iodine deficiency syndrome of neurological type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital abnormal fusion Is a False Developmental anomaly Inferred relationship Some
    Incomplete anencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oral lymphangioma Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital hypothyroidism without goitre Associated morphology False Developmental anomaly Inferred relationship Some 1
    Malformation defect spectrum Associated morphology False Developmental anomaly Inferred relationship Some 1
    Thalidomide embryopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital vascular anomaly Is a False Developmental anomaly Inferred relationship Some
    Shprintzen syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Thoracodidymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Mietens syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mietens syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Otocephalic syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Macropalpebral fissure Associated morphology False Developmental anomaly Inferred relationship Some 3
    Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital pulmonary lymphangiectasis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Gastrothoracopagus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Rothmund-Thomson syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Synotus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fetal primidone syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malformation of lymphatic vessel of skin (disorder) 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 4
    Franceschetti-Klein syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital cavitation Is a False Developmental anomaly Inferred relationship Some
    Venous-lymphatic malformation Associated morphology False Developmental anomaly Inferred relationship Some 4
    Heterodymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    VATER association Associated morphology False Developmental anomaly Inferred relationship Some 1
    Immotile cilia syndrome due to defective radial spokes Associated morphology False Developmental anomaly Inferred relationship Some 1
    Persistence of primitive artery Associated morphology False Developmental anomaly Inferred relationship Some 3
    Fetal carbamazepine syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Diffuse lymphangioma Associated morphology False Developmental anomaly Inferred relationship Some 2
    Facio-auriculo-vertebral spectrum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cephalodymus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital abnormal communication Is a False Developmental anomaly Inferred relationship Some
    Dicephalus dipus tetrabrachius Associated morphology False Developmental anomaly Inferred relationship Some 2
    Celosomus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Duhamel's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fetal valproate syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Abdominosacroperineal pull-through Direct morphology False Developmental anomaly Inferred relationship Some 2
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cutback of covered anus Direct morphology False Developmental anomaly Inferred relationship Some 3
    Distichiasis-lymphedema syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Double monster Associated morphology False Developmental anomaly Inferred relationship Some 1
    Systemic lymphangiomatosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Monocephalus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital malformation of uterus and cervix Associated morphology False Developmental anomaly Inferred relationship Some 3
    Fetus with central nervous system malformation - delivered Associated morphology False Developmental anomaly Inferred relationship Some 2
    Janiceps Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hajdu-Cheney syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fetal toluene syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Multiple system malformation syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cleft palate lateral synechia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pallister-Hall syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Gastrothoracopagus dipygus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dicephalic parapagus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Zellweger syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Sacroperineal pull-through Direct morphology False Developmental anomaly Inferred relationship Some 2
    Fetus with central nervous system malformation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Derencephalus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Triplet monster Associated morphology False Developmental anomaly Inferred relationship Some 1
    Monocephalus tetrapus dibrachius Associated morphology False Developmental anomaly Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Trichorhinophalangeal syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malformation of tongue, mouth and pharynx Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of tongue, mouth and pharynx Associated morphology False Developmental anomaly Inferred relationship Some 3

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