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112635002: Congenital malformation (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848661000005114 Kongenit malformation 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 malformation Is a kongenit anomali false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Hanhart's syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of genital organs Associated morphology False Kongenit malformation Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Kongenit malformation Inferred relationship Some 2
    Bipartite ossification of sternebra Associated morphology False Kongenit malformation Inferred relationship Some 1
    hypoplasi af kønsorgan, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    A rare X-linked syndromic intellectual disability with characteristics of 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. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. Associated morphology False Kongenit malformation Inferred relationship Some 3
    atresi af kønsorgan, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    Reifensteins syndrom Associated morphology False Kongenit malformation Inferred relationship Some 2
    [X]Other congenital lens malformations Associated morphology False Kongenit malformation Inferred relationship Some 1
    Port-wine stain in Rubinstein-Taybi syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    anden clitorisanomali Associated morphology False Kongenit malformation Inferred relationship Some 1
    Mixed vascular malformation (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of tongue, mouth and pharynx (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Angiokeratoma circumscriptum Associated morphology False Kongenit malformation Inferred relationship Some 2
    Oculodento-osseous dysplasia - mild type Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital anomaly of endocrine ovary (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 2
    Synophrys Associated morphology False Kongenit malformation Inferred relationship Some 2
    A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Associated morphology False Kongenit malformation Inferred relationship Some 1
    Epicapsular star (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of the eyebrow (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital elongation of innominate artery Associated morphology False Kongenit malformation Inferred relationship Some 2
    kendt ELLER mistanke om føtal hydrocefalus med indvirkning på obstetrisk behandling og pleje Associated morphology False Kongenit malformation Inferred relationship Some 1
    vaskulære anomalier i posteriort øjenkammer, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 2
    Cockayne syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    FG syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Double eyebrow Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital malformation of anterior pituitary Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of the urinary system Associated morphology False Kongenit malformation Inferred relationship Some 1
    Flat palate Associated morphology False Kongenit malformation Inferred relationship Some 1
    A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. Associated morphology False Kongenit malformation Inferred relationship Some 1
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Kongenit malformation Inferred relationship Some 1
    Townes syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital palato-oesophageal incoordination Associated morphology False Kongenit malformation Inferred relationship Some 2
    Nager syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Jarcho-Levin syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Exstrophy of urinary bladder sequence Associated morphology False Kongenit malformation Inferred relationship Some
    Generalised essential telangiectasia Associated morphology False Kongenit malformation Inferred relationship Some 2
    Hypogonadism with prune belly syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Cervical, vaginal and external female genital anomalies Associated morphology False Kongenit malformation Inferred relationship Some 2
    Perodaktyli Associated morphology False Kongenit malformation Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Vascular loops of inner ear Associated morphology False Kongenit malformation Inferred relationship Some 1
    Port-wine stain in proteus syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). Associated morphology False Kongenit malformation Inferred relationship Some 1
    Vascular malformation of the nervous system Associated morphology False Kongenit malformation Inferred relationship Some 1
    Ubestemmeligt køn, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Van der Woude syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    anden anomali af cervix, vagina og ydre kvindelige kønsorganer, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Cavernous hemangioma Associated morphology False Kongenit malformation Inferred relationship Some 1
    anomalier af cervix, vagina og ydre kvindelige kønsorganer, uspecificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of salivary glands and ducts Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital fissure of epiglottis Associated morphology False Kongenit malformation Inferred relationship Some 1
    andre specificerede mund- og pharynxanomalier Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital vascular malformation due to inherited syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    manglende åbninger i kraniet Associated morphology False Kongenit malformation Inferred relationship Some 1
    Female hypospadias (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Grafting of palate for cleft palate repair (procedure) Direct morphology False Kongenit malformation Inferred relationship Some 2
    False hermaphrodite Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Other congenital malformations of renal artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Percutaneous transluminal ablation of congenital heart malformation Direct morphology False Kongenit malformation Inferred relationship Some 1
    Mohr syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Shprintzens syndrom Associated morphology False Kongenit malformation Inferred relationship Some 1
    Rieger syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hemicardia Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital enlargement of nasopharynx Associated morphology False Kongenit malformation Inferred relationship Some 2
    Prune belly syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital anomaly of endocrine testis (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital malformation of the respiratory system Associated morphology False Kongenit malformation Inferred relationship Some 1
    Holoprosencephaly sequence Associated morphology False Kongenit malformation Inferred relationship Some 1
    Persistent omphalomesenteric artery Associated morphology False Kongenit malformation Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False Kongenit malformation Inferred relationship Some 2
    Perodactylia of great toe Associated morphology False Kongenit malformation Inferred relationship Some 1
    Incomplete ossification of sternebra Associated morphology False Kongenit malformation Inferred relationship Some 1
    Perineal hypospadias (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False Kongenit malformation Inferred relationship Some
    ubestemmeligt køn og pseudohermafroditisme Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital anterior capsular pigmentation Associated morphology False Kongenit malformation Inferred relationship Some 2
    Penoscrotal hypospadias (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital pharyngeal polyp Associated morphology False Kongenit malformation Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    glandulær hypospadi Associated morphology False Kongenit malformation Inferred relationship Some 2
    Klippel-Trénaunay-Webers syndrom Associated morphology False Kongenit malformation Inferred relationship Some 2
    Developmental anomaly of vitelline duct (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 2
    Synotus Associated morphology False Kongenit malformation Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Kongenit malformation Inferred relationship Some 1
    Cleft tongue Associated morphology False Kongenit malformation Inferred relationship Some 1
    Mietens syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Central nervous system malformation in fetus affecting obstetrical care (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Lack of ossification of sternebra Associated morphology False Kongenit malformation Inferred relationship Some 1
    Agnathus Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital short hard palate Associated morphology False Kongenit malformation Inferred relationship Some 2
    Pure gonadal dysgenesis Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital vascular malformation (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital anomaly of endocrine gonad (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital anomaly of sternebra Associated morphology False Kongenit malformation Inferred relationship Some 1
    Correction of congenital anorectal malformation Direct morphology False Kongenit malformation Inferred relationship Some 1
    Hooded clitoris Associated morphology False Kongenit malformation Inferred relationship Some 1
    Verrucous hemangioma of skin Associated morphology False Kongenit malformation Inferred relationship Some 2
    Coffin-Siris syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    arterieanomali, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1

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