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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Renal pelvis and ureter obstructive defects	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Prominent valve of inferior vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other pharynx anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified anomalies of diaphragm	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Preauricular fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
fibrolipome d'un filum terminal	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Discordant ventriculoarterial connection	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomalies of intestine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Talipes calcaneovarus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Trisomy 13, meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Pancreas divisum - complete (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 18 - meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Hypoplasia of cardiac vein	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Trisomy 21- meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Correction of congenital deformity of hip NOS	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of pancreas NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other specified anomalies of pancreas	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Aortic root congenital abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
10p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
8q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Persistent cerebral embryonic artery	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of aortic arch	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ash leaf spot, tuberous sclerosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of fallopian tubes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital vascular disorder (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Turner's phenotype, other variant karyotypes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Cobb's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of skeletal muscle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pleuropericardial cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervical thymic remnant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Kommerell's diverticulum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bregeat's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital pancreatic trypsin deficiency (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Complete trisomy 18 syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Café-au-lait spots and ring chromosome 11 (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Primary seborrhea (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dextraposition of aorta in Fallot's tetralogy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Anomalies of upper alimentary tract NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
9p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Triple pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Other specified correction of congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localized abdominal wall skin atrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spinal dysgenesis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
1q partial monosomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Pancreas divisum (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Pulmonary artery anomaly, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of blood vessel of upper limb (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Exstrophy of cloaca sequence	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Correction of congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
13q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Mosaicism 45, X; 46, XX	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Double outlet left ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified upper alimentary tract anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pancreas divisum - incomplete (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ovarian dwarfism NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Dextrotransposition of aorta (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ring chromosome 11 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
syndrome de Down (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Preauricular sinus and fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
11q partial monosomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Obstructive defect of renal pelvis or ureter NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome du chromosome 1 en anneau (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Turner's syndrome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
10q partial monosomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Trisomy 13 - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Unspecified anomaly of heart valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital malformation of pancreas	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Trisomy 21- mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Defective development of the cauda equina	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Preauricular sinus, pit or fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Cyclops hypognathus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epstein's pearl of palate (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Preauricular sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Opocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Leydig cell agenesis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Preauricular sinus or fistula NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital enlargement (morphologic abnormality)	est un(e) (attribut)	False	Congenital anomaly	Inferred relationship	Some
Posterolateral release for correction of congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
acro-céphalo-syndactylie de type V	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Primary osteotomy of pelvis for correction of congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cloverleaf skull syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Saethre-Chotzen syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Humeroulnar synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Salter osteotomy for congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
syndrome de craniosynostose (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Osteotomy of ilium for correction of congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Congenital tracheobronchomegaly (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cyclops hypognathus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome oto-onycho-péronéal	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ulnar and humeroulnar synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Chiari osteotomy for congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Lateral developmental cyst of jaw	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital cyst of canal of Nuck (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Colonna osteotomy for congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Congenital palato-oesophageal incoordination	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core