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

782173000: Agenesis (morphologic abnormality)

Status: current, 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
3752699013 Agenesis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3752700014 Agenesis en Synonym (core metadata concept) 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
Agenesis (morphologic abnormality) Is a Aplasia true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Duane-radial ray syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of body of uterus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Potter's facies Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 4
Congenital absence of left lower limb (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of esophagus with tracheo-esophageal fistula Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital cystic eyeball (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of artery Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Partial agenesis of corpus callosum Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
Anophthalmos of bilateral eyes (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Anophthalmos of bilateral eyes (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of bilateral lungs Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of bilateral lungs Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of tarsal bone and metatarsal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of tarsal bone and metatarsal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital complete absence of bilateral lower limbs Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital complete absence of bilateral lower limbs Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of umbilical cord (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Complete agenesis of vermis (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital agenesis of vagina Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Bilateral primary aphakia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Bilateral primary aphakia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of bilateral radiuses (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bilateral radiuses (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of rib Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of lung Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of lobe of lung (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of ulna Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of vulva Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of hand Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of foot Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of ovary Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of femur Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of liver (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of tibia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of ilium Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of pubis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of talus (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of vomer Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of uterus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of fibula Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of ureter (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of testis (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of radius Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of thymus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of spleen Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of urinary bladder (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of cilia of eyelid (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of humerus (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of stomach Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of ischium Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of maxilla Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of trachea (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of bronchus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of scapula (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of pancreas Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of clitoris (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of mandible (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of bile duct Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of diaphragm (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of esophagus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of left hand Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of sternebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of calcaneus (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of hyoid bone (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of nasal bone (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of epididymis (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of premaxilla (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of right hand (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of gallbladder Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of tarsal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Bilateral testicular agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Bilateral testicular agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of carpal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of bilateral feet (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of bilateral feet (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of metacarpal bone (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Complete aphalangia of upper limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Holoacardius acormus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Holoacardius acephalus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Omocephalus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Holoacardius amorphus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Acardiacus anceps Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Anodontie Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Anodontie Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Bilateral complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
Bilateral complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 4
Bilateral complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 5
Bilateral complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 6
Bilateral complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 7
Bilateral complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 8
Complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
Complete phocomelia of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 4
Agenesis of right hemisphere of cerebellum (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1

Start Previous Page 3 of 4 End

This concept is not in any reference sets

Back to Start