FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

363027008: Congenital anomaly of body wall (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482162017 Congenital anomaly of body wall en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754805018 Congenital anomaly of body wall (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5229001000241112 anomalie congénitale de la paroi du corps fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

260 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of body wall Is a Congenital anomaly of trunk false Inferred relationship Some
Congenital anomaly of body wall Occurrence Congenital false Inferred relationship Some
Congenital anomaly of body wall Finding site Trunk structure (body structure) false Inferred relationship Some 2
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of body wall Is a Disorder of body wall (disorder) true Inferred relationship Some
Congenital anomaly of body wall Finding site Body wall structure true Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of body wall Occurrence Congenital false Inferred relationship Some 3
Congenital anomaly of body wall Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital anomaly of body wall Finding site Body wall structure false Inferred relationship Some 3
Congenital anomaly of body wall Is a Congenital malformation true Inferred relationship Some
Congenital anomaly of body wall Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of body wall Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of body wall Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital deformity of chest wall Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital anomaly of abdominal wall Is a False Congenital anomaly of body wall Inferred relationship Some
Congenital anomaly of lumbar vertebra Is a False Congenital anomaly of body wall Inferred relationship Some
Lumbar spina bifida with hydrocephalus Is a False Congenital anomaly of body wall Inferred relationship Some
Congenital anomaly of pelvic bones Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital deformity of sacroiliac joint (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital anomaly of rib Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital absence of pectoral muscle Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital malformation of sternum Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital asymmetry of tonsils (disorder) Is a False Congenital anomaly of body wall Inferred relationship Some
Congenital fusion of sacroiliac joint Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital lumbosacral fusion (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Acropectororenal dysplasia Is a False Congenital anomaly of body wall Inferred relationship Some
Thoracic insufficiency syndrome is a complex condition involving congenital chest wall deformities that affect normal breathing and lung growth. It results from serious defects affecting the ribs or chest wall, such as severe scoliosis or rib fusion, and various hypoplastic thorax syndromes such as Jeune Syndrome and Jarcho-Levin syndrome. Is a False Congenital anomaly of body wall Inferred relationship Some
Congenital wide symphysis pubis (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital eventration of left crus of diaphragm (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital eventration of right crus of diaphragm Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital thoracostenosis Is a True Congenital anomaly of body wall Inferred relationship Some
Thoracoschisis Is a True Congenital anomaly of body wall Inferred relationship Some
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a False Congenital anomaly of body wall Inferred relationship Some
Hypoplasia of sacrum (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Sacral agenesis Is a False Congenital anomaly of body wall Inferred relationship Some
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). Is a False Congenital anomaly of body wall Inferred relationship Some
Pygopagus Is a False Congenital anomaly of body wall Inferred relationship Some
Caudal regression syndrome Is a False Congenital anomaly of body wall Inferred relationship Some
Congenital malformation of anterior abdominal wall Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital deformity of lumbosacral joint Is a True Congenital anomaly of body wall Inferred relationship Some
Lumbosacral agenesis (disorder) Is a False Congenital anomaly of body wall Inferred relationship Some
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Is a False Congenital anomaly of body wall Inferred relationship Some
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. Is a True Congenital anomaly of body wall Inferred relationship Some
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Is a False Congenital anomaly of body wall Inferred relationship Some
Cleidocranial dysostosis Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital pseudoarthrosis of clavicle (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital abnormal shape of clavicle Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital hypoplasia of clavicle Is a True Congenital anomaly of body wall Inferred relationship Some
Agenesis of clavicle Is a False Congenital anomaly of body wall Inferred relationship Some
Lack of ossification of clavicle Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital thickening of clavicle Is a True Congenital anomaly of body wall Inferred relationship Some
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Is a False Congenital anomaly of body wall Inferred relationship Some
Incomplete ossification of clavicle Is a True Congenital anomaly of body wall Inferred relationship Some
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Is a True Congenital anomaly of body wall Inferred relationship Some
Lumbar myelocystocele Is a True Congenital anomaly of body wall Inferred relationship Some
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Aplasia of clavicle Is a True Congenital anomaly of body wall Inferred relationship Some
Aplasia of muscle of abdominal wall (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital hypoplasia of muscle of abdominal wall (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital hypoplasia of pectoral muscle (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some
Congenital hypoplasia of serratus anterior muscle (disorder) Is a True Congenital anomaly of body wall Inferred relationship Some

Reference Sets

GB English

Back to Start