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
anomalie congénitale	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
anomalie congénitale	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leydig cell agenesis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Preauricular sinus or fistula NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital enlargement	Is a	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Posterolateral release for correction of congenital deformity of foot (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary osteotomy of pelvis for correction of congenital deformity of hip (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cloverleaf skull syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Saethre-Chotzen syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Humeroulnar synostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Salter osteotomy for congenital deformity of hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniosynostosis syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteotomy of ilium for correction of congenital deformity of hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital tracheobronchomegaly	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cyclops hypognathus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oto-onycho-peroneal syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ulnar and humeroulnar synostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chiari osteotomy for congenital deformity of hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lateral developmental cyst of jaw	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cyst of canal of Nuck	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Colonna osteotomy for congenital deformity of hip	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital palato-esophageal incoordination	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Iniencephaly NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Opocephalus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Angelman syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Iniencephaly - closed	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Iniencephaly - open	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Iniencephaly	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital choledochal cyst (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schprintzen	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachycephaly	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniorachischisis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bicoronal craniosynostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Leydig cell agenesis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Unicoronal craniosynostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ulnar and humeroulnar synostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly type I	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Humeroulnar synostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Release of subtalar joint for correction congenital deformity of foot	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypoplasia of right heart	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oto-onycho-peroneal syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oto-onycho-peroneal syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Oto-onycho-peroneal syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Septo-optic dysplasia sequence	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Posterolateral release for correction of congenital deformity of foot (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of metacarpal bone	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of syndactyly of fingers using skin graft	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of ulna	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Stabilization of hypoplastic thumb	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Repair of syndactyly	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Longitudinal deficiency of lower limb (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of tibia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of clinodactyly with osteotomy and bone graft	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Realignment of congenital ulnar drift	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caudal hemivertebra	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of syndactyly of fingers using skin expander	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lateral developmental cyst of jaw	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of fibula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of radius AND ulna	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of radius AND ulna	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectromelia	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple congenital anomalies	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Longitudinal deficiency of radius (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of femur (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of tarsal bone	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type I	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of carpal bone	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of congenital deformity of hand (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reduction of gigantism of hand	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Release of subtalar joint for correction congenital deformity of foot	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital palato-esophageal incoordination	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Incomplete ossification of carpal bone	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
anomalie longitudinale d'un metatarsien	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of foot	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of tibia AND/OR fibula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
microsomie partielle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of mirror hand	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of camptodactyly	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of humerus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reduction of macrodactyly of hand (procedure)	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
croissance partielle d'un membre entier	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of phalanges of hand (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of complicated syndactyly	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of clinodactyly	Direct morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of phalanges of foot	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Longitudinal deficiency of limb	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Split spinal cord malformation (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lunate-triquetrum synostosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atrioventricular septal defect with separate atrioventricular orifices (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to diaphragm (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nance-Horan syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Longitudinal deficiency of foot	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of metacarpal bone	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
anomalie longitudinale d'un metatarsien	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Start Previous Page 117 of 124 Next End

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO 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
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module