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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1208681014 Developmental abnormality en Synonym Active Case insensitive SNOMED CT core
    183282017 Developmental anomaly en Synonym Active Case insensitive SNOMED CT core
    190336012 Developmental malformation en Synonym Active Case insensitive SNOMED CT core
    190337015 Developmental defect en Synonym Active Case insensitive SNOMED CT core
    190338013 Dysgenesis en Synonym Active Case insensitive SNOMED CT core
    190339017 Anomalous formation en Synonym Active Case insensitive SNOMED CT core
    190340015 Abnormal development en Synonym Active Case insensitive SNOMED CT core
    190341016 Malformation en Synonym Active Case insensitive SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Parkes Weber syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Angio-osteohypertrophic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Angio-osteohypertrophic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    46,XY partial gonadal dysgenesis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Celosomus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ethmocephalus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Richieri Costa Pereira syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Neuroectodermal endocrine syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Neuroectodermal endocrine syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Nephrosis, deafness, urinary tract, digital malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    MOMO syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Methimazole embryofetopathy Associated morphology False Developmental abnormality Inferred relationship Some 1
    LIG4 syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    KRT14 related epidermolysis bullosa simplex Associated morphology False Developmental abnormality Inferred relationship Some 5
    Kleefstra syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Infantile osteopetrosis with neuroaxonal dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital ichthyosis with hypotrichosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Autosomal dominant osteopetrosis type 2 Associated morphology False Developmental abnormality Inferred relationship Some 1
    Neuroectodermal melanolysosomal disease Associated morphology False Developmental abnormality Inferred relationship Some 2
    Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Keratosis palmaris et plantaris with clinodactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Junctional epidermolysis bullosa non-Herlitz type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Hypertelorism Teebi type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Mesio-occlusion of teeth Associated morphology False Developmental abnormality Inferred relationship Some 1
    Supernumerary roots Associated morphology False Developmental abnormality Inferred relationship Some 3
    Pericardial and diaphragmatic defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Congenital trigger thumb of right hand Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital trigger thumb of left hand Associated morphology False Developmental abnormality Inferred relationship Some 1
    Polysyndactyly and cardiac malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Crisponi syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Craniomicromelic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Neutropenia, monocytopenia, deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Persistent fetal uterus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bilateral Osgood-Schlatter disease Associated morphology False Developmental abnormality Inferred relationship Some 6
    Crowding of teeth Associated morphology False Developmental abnormality Inferred relationship Some 2
    Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital anomaly of humerus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of radius Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of ulna Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of femur Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of fibula Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of tibia Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of calcaneus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of metatarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Crisponi syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Craniomicromelic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Temple Baraitser syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Atrial septal defect, atrioventricular conduction defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital anomaly of carpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of metacarpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital anomaly of external female genitalia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Keutel syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Craniolenticulosutural dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 6
    PELVIS syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    5-amino-4-imidazole carboxamide ribosiduria Associated morphology False Developmental abnormality Inferred relationship Some 3
    Mesonephric duct cyst Associated morphology False Developmental abnormality Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False Developmental abnormality Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False Developmental abnormality Inferred relationship Some 2
    Retinoid embryopathy Associated morphology False Developmental abnormality Inferred relationship Some 1
    Cerebral gigantism jaw cysts syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Centripetalis recessive dystrophic epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 5
    Autosomal recessive faciodigitogenital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Autosomal recessive faciodigitogenital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Autosomal recessive faciodigitogenital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital myopathy Paradas type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital anteversion of femur Associated morphology False Developmental abnormality Inferred relationship Some
    Bathing suit ichthyosis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital enterocyte heparan sulfate deficiency Associated morphology False Developmental abnormality Inferred relationship Some 1
    TARP syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Longitudinal deficiency of metatarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Infundibulopelvic stenosis multicystic kidney syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Intellectual disability Buenos Aires type Associated morphology False Developmental abnormality Inferred relationship Some 1
    Neurofaciodigitorenal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Neurofaciodigitorenal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Neurofaciodigitorenal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    CAMOS syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Kousseff syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Patent ductus arteriosus with left-to-right shunt Associated morphology False Developmental abnormality Inferred relationship Some 4
    Patent ductus arteriosus with right-to-left shunt Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital anomaly of descending thoracic aorta Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital anomaly of abdominal aorta Associated morphology False Developmental abnormality Inferred relationship Some 1
    Compression of trachea and oesophagus co-occurrent and due to congenital anomaly of aortic arch Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital venous malformation of skin Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cystic hygroma in fetus Associated morphology False Developmental abnormality Inferred relationship Some 5
    Keratinopathic ichthyosis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hereditary skin peeling syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Distal myopathy Welander type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Short rib polydactyly syndrome Saldino Noonan type Associated morphology False Developmental abnormality Inferred relationship Some 7
    Talocalcaneal coalition Associated morphology False Developmental abnormality Inferred relationship Some
    Suprabasal epidermolysis bullosa simplex Associated morphology False Developmental abnormality Inferred relationship Some 5
    Scalp defect postaxial polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1

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