107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier
Congenital anomaly	Is a	Developmental anomaly	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leydig cell agenesis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Preauricular sinus or fistula NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital enlargement	Is a	False	Congenital anomaly	Inferred relationship	Existential restriction modifier
Posterolateral release for correction of congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Primary osteotomy of pelvis for correction of congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Cloverleaf skull syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Saethre-Chotzen syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Humeroulnar synostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Salter osteotomy for congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Craniosynostosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Osteotomy of ilium for correction of congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital tracheobronchomegaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Cyclops hypognathus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Oto-onycho-peroneal syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Ulnar and humeroulnar synostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chiari osteotomy for congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Lateral developmental cyst of jaw	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital cyst of canal of Nuck	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Colonna osteotomy for congenital deformity of hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital palatoesophageal incoordination	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Iniencephaly NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Opocephalus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Iniencephaly - closed	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Iniencephaly - open	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Iniencephaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital choledochal cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Schprintzen	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Brachycephaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Craniorachischisis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Bicoronal craniosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Leydig cell agenesis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Unicoronal craniosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ulnar and humeroulnar synostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Humeroulnar synostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Release of subtalar joint for correction congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hypoplasia of right heart	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Oto-onycho-peroneal syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Oto-onycho-peroneal syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Oto-onycho-peroneal syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Septo-optic dysplasia sequence	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Posterolateral release for correction of congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of metacarpal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of syndactyly of fingers using skin graft	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of ulna	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Stabilization of hypoplastic thumb	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Repair of syndactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Longitudinal deficiency of lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of tibia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of clinodactyly with osteotomy and bone graft	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Realignment of congenital ulnar drift	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Caudal hemivertebra	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of syndactyly of fingers using skin expander	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Lateral developmental cyst of jaw	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of fibula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of radius AND ulna	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of radius AND ulna	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Ectromelia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Multiple congenital anomalies	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier
Longitudinal deficiency of radius	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of femur	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of tarsal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of carpal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of congenital deformity of hand	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Reduction of gigantism of hand	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Release of subtalar joint for correction congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital palatoesophageal incoordination	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Incomplete ossification of carpal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of metatarsal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of foot	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of tibia AND/OR fibula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Meromicrosomia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of mirror hand	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of camptodactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of humerus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Reduction of macrodactyly of hand	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Undergrowth of whole limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of phalanges of hand	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of complicated syndactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of clinodactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of phalanges of foot	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Longitudinal deficiency of limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Split spinal cord malformation	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Lunate-triquetrum synostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with separate atrioventricular orifices	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Left ventricular outflow tract obstruction due to diaphragm	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Nance-Horan syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Longitudinal deficiency of foot	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of metacarpal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Longitudinal deficiency of metatarsal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module