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)

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
Congenital absence of lung fissures	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Fusion of lobes of lung	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital talipes equinus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of oral mucosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ectopic oral gastrointestinal cyst	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Talipes equinus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anosmia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
atresia choanae med CHARGE-syndrom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital laryngeal abductor palsy	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital laryngeal adductor palsy	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital cleft larynx	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital cystic bronchiectasis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital tracheal fistula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Infected bronchogenic cyst	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Cavernous hemangiomas of face and supraumbilical midline raphe	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Follicular ichthyosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Oral lymphangioma	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
lokaliseret hudatrofi på abdominalvæggen	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of nose	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Pseudo-polycoria	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Laryngeal hypoplasia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital laryngomalacia (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital malformation of trachea and bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Primary congenital bronchomalacia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Secondary congenital bronchomalacia (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
bronchus picus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dysplasia of lung	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Bronchopulmonary isomerism	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Kongenit manglende hemidiaphragma – unilateralt	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absent hemidiaphragm - bilateral	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Multiple self-healing epithelioma of Ferguson-Smith	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Unilateralt segmentært kavernøst hæmangiom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
B-K mole (nevus) syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Follicular atrophoderma and basal cell epitheliomata	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Ectopic tissue in lung	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital abnormality of nose and nasopharynx	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital abnormality of oral cavity	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital broncho-esophageal fistula without atresia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Laryngeal cleft type I	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Laryngeal cleft type II	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Laryngeal cleft type III	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Laryngeal cleft type IV	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital eventration of left crus of diaphragm	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of lower respiratory system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of nose	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of nasal sinuses	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital epulis of newborn	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital gingival granular cell tumor	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Microstomia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Gorham's disease	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital eventration of diaphragm	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital tracheocele	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Talipes calcaneovarus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital skin fragility of animals	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Talipes calcaneus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital eventration of right crus of diaphragm	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital atresia of nares	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital atresia of nares	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of trachea	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of upper respiratory system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital diverticulum of bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of pleural folds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of lung	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital emphysema	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital atresia of bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital diverticulum of trachea	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital cyst of mediastinum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Gardner syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Multiple endocrine neoplasia, type 2b	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Turcot syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital dilatation of trachea	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Persistent tunica vasculosa lentis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Median palatal cyst	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital lobar emphysema	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Cerebral-retinal arteriovenous aneurysm (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Talipes equinovalgus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Talipes planovalgus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Gorlin syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital anomaly of larynx	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of diaphragm	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Familial multiple polyposis syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Congenital short hard palate	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital bronchiectasis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
kongenit anomali i respirationssystemet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital leptomeningeal angiomatosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of diaphragm	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Accessory bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Abnormal lung lobation (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital malposition of trachea	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital bronchomalacia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital stenosis of trachea	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Deformity of nasal sinus wall	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital perforation of the nasal sinus wall	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Agenesis of larynx, trachea and bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Agenesis of bronchus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Agenesis of larynx	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anomali i cartilago cricoidea	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Atresia of larynx and trachea	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1

Start Previous Page 48 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

REFERS TO concept association reference set

Back to Start

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)