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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Muskeltransposition mhp. korrektion af klotå Direct morphology False kongenit anomali Inferred relationship Some 3
    Disorder of central nervous system due to xeroderma pigmentosum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cutaneous angiomatosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Perinatal icterus som følge af galdepropsyndrom Associated morphology False kongenit anomali Inferred relationship Some 2
    Sten i ductus choledochus med kronisk kolecystit uden obstruktion Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital scar Associated morphology False kongenit anomali Inferred relationship Some 2
    Female infertility due to structural congenital anomaly of cervix (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Diplopodia Associated morphology False kongenit anomali Inferred relationship Some 1
    Pectus excavatum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital coxa vara Associated morphology False kongenit anomali Inferred relationship Some 1
    Persistent cloaca Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of spine Associated morphology False kongenit anomali Inferred relationship Some 1
    Dyskeratosis congenita Associated morphology False kongenit anomali Inferred relationship Some 2
    Nemaline myopathy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Hereditary edema of legs Associated morphology False kongenit anomali Inferred relationship Some 1
    Pseudohermaphroditism Associated morphology False kongenit anomali Inferred relationship Some 1
    umbilikalhernie uden obstruktion OG uden gangræn Associated morphology False kongenit anomali Inferred relationship Some 4
    Congenital deformity of chest wall Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anoperineal fistula Associated morphology False kongenit anomali Inferred relationship Some 1
    Benign autosomal dominant osteopetrose Associated morphology False kongenit anomali Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa, albopapular type Associated morphology False kongenit anomali Inferred relationship Some 2
    Johanson-Blizzard syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Rudimentary tracheal bronchus Associated morphology False kongenit anomali Inferred relationship Some 3
    Kongenit lumbosakral stenose Associated morphology False kongenit anomali Inferred relationship Some 1
    Duchenne muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Junctional epidermolysis bullosa Associated morphology False kongenit anomali Inferred relationship Some
    Oculopharyngeal muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Reduction deformity of lower limb Associated morphology False kongenit anomali Inferred relationship Some 2
    Paraspadias Associated morphology False kongenit anomali Inferred relationship Some 1
    Atlanto-occipital malformation Associated morphology False kongenit anomali Inferred relationship Some 1
    Non-neurologic xeroderma pigmentosum Associated morphology False kongenit anomali Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    Stickler syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Hallermann-Streiff syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of muscle AND/OR tendon Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital deformity of clavicle Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbosacral prespondylolisthesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Familial benign pemphigus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital displacement of esophagus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital duplication of liver Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hepatic fibrosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital junctional epidermolysis bullosa Associated morphology False kongenit anomali Inferred relationship Some 1
    mirror hands Associated morphology False kongenit anomali Inferred relationship Some 1
    Porokeratosis of Mibelli Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus bicornuatus vetularum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital spondylolysis of lumbosacral region Associated morphology False kongenit anomali Inferred relationship Some 3
    Omphalomesenteric duct cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of common bile duct with acute cholecystitis with obstruction Associated morphology False kongenit anomali Inferred relationship Some 3
    Diffuse palmoplantar keratoderma Associated morphology False kongenit anomali Inferred relationship Some
    Kongenit abdominalvæganomali Associated morphology False kongenit anomali Inferred relationship Some 1
    hemimeli af underekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    Opitz-Frias syndrome Associated morphology False kongenit anomali Inferred relationship Some 3
    A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hydrocele (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Myotubular myopathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of bile duct with acute cholecystitis Associated morphology False kongenit anomali Inferred relationship Some 2
    Embryonic cyst of Gartner's duct Associated morphology False kongenit anomali Inferred relationship Some 4
    Segmental uterine aplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Astragaloscaphoid synostosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of prostate Associated morphology False kongenit anomali Inferred relationship Some 1
    Repair of macrodactyly of finger Direct morphology False kongenit anomali Inferred relationship Some 1
    Saethre-Chotzen syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal dermatoglyphic pattern Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of spermatic cord Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of breast Associated morphology False kongenit anomali Inferred relationship Some 1
    Mixed gonadal dysgenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital microgastria Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of skeletal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital melanocytic nevus Associated morphology False kongenit anomali Inferred relationship Some
    Congenital volvulus of stomach Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of fallopian tubes Associated morphology False kongenit anomali Inferred relationship Some 1
    Splayleg in piglets Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus bicameratus vetularum Associated morphology False kongenit anomali Inferred relationship Some 1
    Microhepatia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital diverticulum of colon Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of thoracic cage Associated morphology False kongenit anomali Inferred relationship Some 1
    Ectodermal dysplasia Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of rectum Associated morphology False kongenit anomali Inferred relationship Some 1
    Hyperplasia of islet alpha cells with glucagon excess Associated morphology False kongenit anomali Inferred relationship Some 1
    Erhvervet equinovarus deformitet Associated morphology False kongenit anomali Inferred relationship Some 4
    Female pseudohermaphroditism Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cranial osteoporosis Associated morphology False kongenit anomali Inferred relationship Some 1
    A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait. Associated morphology False kongenit anomali Inferred relationship Some
    Lateral developmental cyst of jaw Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of cervix Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, variant form Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of breast Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of liver Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital web of esophagus Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of common bile duct with acute cholecystitis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital displacement of stomach Associated morphology False kongenit anomali Inferred relationship Some 1
    Complete aphalangia of lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False kongenit anomali Inferred relationship Some 2
    Persistent human tail Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of skeletal muscle Associated morphology False kongenit anomali Inferred relationship Some 1
    Mibellis porokeratose, unilateral lineær type Associated morphology False kongenit anomali Inferred relationship Some 1
    Generalized epidermolysis bullosa simplex Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital diverticulum of stomach Associated morphology False kongenit anomali Inferred relationship Some 1

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