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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation Is a anomalie congénitale false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital anomaly of endocrine gonad (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of endocrine testis (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Agenesis of vagina Associated morphology False Congenital malformation Inferred relationship Some 2
    Imperforate vagina Associated morphology False Congenital malformation Inferred relationship Some 2
    Mixed vascular malformation (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Cutaneous vascular malformation (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital vascular malformation (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital vascular malformation of skin Associated morphology False Congenital malformation Inferred relationship Some 1
    Acquired cutaneous vascular malformation Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital vascular malformation due to inherited syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Acquired arteriovenous malformation of the skin (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain with associated anomalies (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain with oculocutaneous melanosis (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Port-wine stain in Rubinstein-Taybi syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain in proteus syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Persistent cerebral embryonic artery Associated morphology False Congenital malformation Inferred relationship Some 3
    A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology False Congenital malformation Inferred relationship Some 2
    A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology False Congenital malformation Inferred relationship Some 3
    Embryonic cyst of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    Embryonic cyst of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Cobb's syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Cobb's syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation of ovaries and fallopian tubes Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of ovaries and fallopian tubes Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Fallopian tube and broad ligament anomalies Associated morphology False Congenital malformation Inferred relationship Some 2
    Fallopian tube and broad ligament anomalies Associated morphology False Congenital malformation Inferred relationship Some 3
    Embryonic cyst of fallopian tube and broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    Embryonic cyst of fallopian tube and broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Fallopian tube and broad ligament anomalies, unspecified Associated morphology False Congenital malformation Inferred relationship Some 2
    Fallopian tube and broad ligament anomalies, unspecified Associated morphology False Congenital malformation Inferred relationship Some 3
    Embryonic cyst of fallopian tube or broad ligament NOS Associated morphology False Congenital malformation Inferred relationship Some 2
    Embryonic cyst of fallopian tube or broad ligament NOS Associated morphology False Congenital malformation Inferred relationship Some 3
    Other fallopian tube and broad ligament anomalies Associated morphology False Congenital malformation Inferred relationship Some 2
    Other fallopian tube and broad ligament anomalies Associated morphology False Congenital malformation Inferred relationship Some 3
    Other fallopian tube or broad ligament anomalies NOS Associated morphology False Congenital malformation Inferred relationship Some 2
    Other fallopian tube or broad ligament anomalies NOS Associated morphology False Congenital malformation Inferred relationship Some 3
    Fallopian tube or broad ligament anomalies NOS Associated morphology False Congenital malformation Inferred relationship Some 2
    Fallopian tube or broad ligament anomalies NOS Associated morphology False Congenital malformation Inferred relationship Some 3
    [X]Other congenital malformations of fallopian tube and broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    [X]Other congenital malformations of fallopian tube and broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Iniencephaly - closed Associated morphology False Congenital malformation Inferred relationship Some 2
    Iniencephaly - open Associated morphology False Congenital malformation Inferred relationship Some 2
    Lip pits Associated morphology False Congenital malformation Inferred relationship Some 1
    Commissural lip pits Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital midline sinus of philtrum Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital umbilical defect Associated morphology False Congenital malformation Inferred relationship Some 2
    Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Hypogonadism with prune belly syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Lenticonus Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of anterior abdominal wall Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of sternum Associated morphology False Congenital malformation Inferred relationship Some 1
    Bohn's nodule (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Epstein's pearl of palate (disorder) Associated morphology False Congenital malformation Inferred relationship Some 3
    Mesonephric duct cyst of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    Mesonephric duct cyst of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Fistula of lip Associated morphology False Congenital malformation Inferred relationship Some 2
    Exstrophy of cloaca sequence Associated morphology False Congenital malformation Inferred relationship Some 3
    Accessory broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    Accessory broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Iniencephaly Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital absence of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital absence of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Congenital anomaly of lens shape Associated morphology False Congenital malformation Inferred relationship Some 1
    Prune belly syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital atresia of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital atresia of broad ligament Associated morphology False Congenital malformation Inferred relationship Some 3
    Bipartite ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital anomaly of sternebra Associated morphology False Congenital malformation Inferred relationship Some 2
    Lack of ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malposition of sternebra Associated morphology False Congenital malformation Inferred relationship Some 2
    Incomplete ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Some 2
    Posterior lenticonus Associated morphology False Congenital malformation Inferred relationship Some 1
    Posterior lentiglobus Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital pigmentation of lens Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anterior capsular pigmentation Associated morphology False Congenital malformation Inferred relationship Some 2
    Misshapen sternum Associated morphology False Congenital malformation Inferred relationship Some 1
    Iniencephaly NOS Associated morphology False Congenital malformation Inferred relationship Some 2
    Other congenital anomalies of sternum Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other congenital lens malformations Associated morphology False Congenital malformation Inferred relationship Some 1
    [EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure Associated morphology False Congenital malformation Inferred relationship Some 1
    Developmental anomaly of vitelline duct (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Vitelline duct polyp (disorder) Associated morphology False Congenital 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 Congenital malformation Inferred relationship Some 1
    Hypospadias (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    angiodysplasie ostéodystrophique Associated morphology False Congenital malformation Inferred relationship Some 2
    Angioectopia Associated morphology False Congenital malformation Inferred relationship Some 2
    Cavernous hemangioma Associated morphology False Congenital malformation Inferred relationship Some 1
    Vein of Galen malformation (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Epicapsular star (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Cobb's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Cobb's syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Congenital malformation of ovaries and fallopian tubes Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation of ovaries and fallopian tubes Associated morphology False Congenital malformation Inferred relationship Some 1
    Fallopian tube and broad ligament anomalies Associated morphology False Congenital malformation Inferred relationship Some 3
    Fallopian tube and broad ligament anomalies Associated morphology False Congenital malformation Inferred relationship Some 2

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    Reference Sets

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