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
Andre specificerede tilstande forårsaget af autosomale anomalier	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Uspecificerede tilstande forårsaget af autosomale anomalier	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Turners fænotype, andre variante karyotyper	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Turners syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anden specificeret kønskromosomabnormitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Kongenitte anomalier i centralnervesystemet, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital arthrogryposis caused by teratogen (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Translocation Down syndrome (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital syringomyelia (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Ectopic gastric mucosa - multiple sites (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Chiari malformation type II (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Pallister-Killians syndrom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital fibrosis of inferior rectus muscle (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Dysplasi i cerebrale cortex	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Port-wine stain associated with spinal dysraphism (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Café-au-lait-pletter og ringkromosom 11	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Autosomal chromosomal disorder (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
XXYY syndrome (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Poly Y syndrome (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Hereditary neurocutaneous angiomata (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Hereditary neurocutaneous angiomata (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus of late onset	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Spina bifida with hydrocephalus of late onset	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Sturge-Weber syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Sturge-Weber syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Axenfeld anomaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Axenfeld anomaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of uvula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of uvula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Levoatrial cardinal vein	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Levoatrial cardinal vein	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital small optic disc with normal visual function	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital small optic disc with normal visual function	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
specificeret anomali i synsnervepapil, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
specificeret anomali i synsnervepapil, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital epicardial cyst (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital epicardial cyst (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Absence of superior vena cava	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Absence of superior vena cava	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital fissure of epiglottis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital fissure of epiglottis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital uterovesical fistula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital uterovesical fistula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Female epispadias (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Female epispadias (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Reduction of gigantism of foot	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Reduction of gigantism of foot	Direct morphology	False	kongenit anomali	Inferred relationship	Some	3
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	False	kongenit anomali	Inferred relationship	Some	3
Release of syndactyly of toes	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Release of syndactyly of toes	Direct morphology	False	kongenit anomali	Inferred relationship	Some	3
Amputation of supernumerary toe	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Amputation of supernumerary toe	Direct morphology	False	kongenit anomali	Inferred relationship	Some	3
Correction of congenital crossed toes	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Correction of congenital crossed toes	Direct morphology	False	kongenit anomali	Inferred relationship	Some	3
Reduction of macrodactyly of toe (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Reduction of macrodactyly of toe (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	3
Failure of differentiation of bones of lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Failure of differentiation of bones of lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital synostosis of lower limb bones	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital synostosis of lower limb bones	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Duplication of lower limb bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Duplication of lower limb bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Kongenit underudvikling af underekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Kongenit underudvikling af underekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Kongenit komplet underudvikling af underekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Kongenit komplet underudvikling af underekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Constriction ring syndrome of lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Constriction ring syndrome of lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Konstriktionsring i underekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Konstriktionsring i underekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Constriction ring of lower limb with lymphedema	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Constriction ring of lower limb with lymphedema	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Abnormal palmar creases	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Abnormal palmar creases	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Pachydermoperiostosis of nail	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Pachydermoperiostosis of nail	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Anterior perimaxillary faciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anterior perimaxillary faciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Complete perimaxillary faciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Complete perimaxillary faciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Posterior perimaxillary faciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Posterior perimaxillary faciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Ichthyosis congenita with biliary atresia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ichthyosis congenita with biliary atresia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Keratosis pilaris med iktyose og døvhed	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Keratosis pilaris med iktyose og døvhed	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4

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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
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)